Varaico: Literature-Extracted Genetic Variants

Gene:GSN
Variant:p.V30M
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GSN

NM_198252.3:p.V30M

Associated Papers

The evolving spectrum of kidney amyloidosis: advances in diagnosis, typing and treatment.

Allinovi M et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025

Amyloid Neuropathy: From Pathophysiology to Treatment in Light-Chain Amyloidosis and Hereditary Transthyretin Amyloidosis.

Chompoopong P et al.

Annals of Neurology, 2024

Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy Clusters Are Located in Ancient Mining Districts: A Possible Geochemical Origin of the Disease.

Roos PM et al.

Biomolecules, 2024

Iatrogenic Amyloid Polyneuropathy Following Domino Liver Transplantation: A Case Report.

Junqueira B et al.

Cureus, 2024

2023 Expert Consensus of the Taiwan Society of Cardiology on the Diagnosis and Treatment of Cardiac Amyloidosis.

Wang CC et al.

Acta Cardiologica Sinica, 2023

The genetics of cardiac amyloidosis.

Arno S et al.

Heart Failure Reviews, 2022

Surgically treated intradural spinal manifestation of hereditary amyloidogenic transthyretin amyloidosis - A case report and scoping review of the literature.

Voglis S et al.

Brain & Spine, 2022

Hereditary neuropathies: A pathological perspective.

Cavallaro T et al.

Journal of the Peripheral Nervous System : Jpns, 2021

Amyloidosis with Cardiac Involvement: Identification, Characterization, and Management.

Jamal F et al.

Current Hematologic Malignancy Reports, 2021

Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines.

Benson MD et al.

Therapeutics and Clinical Risk Management, 2020

Late-onset Transthyretin (TTR)-familial Amyloid Polyneuropathy (FAP) with a Long Disease Duration from Non-endemic Areas in Japan.

Miyake Z et al.

Internal Medicine (tokyo, Japan), 2019

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis.

Kapoor M et al.

Journal of Neuromuscular Diseases, 2019

Cardiac amyloidosis: An update on pathophysiology, diagnosis, and treatment.

Siddiqi OK et al.

Trends in Cardiovascular Medicine, 2018

Cutaneous Manifestations of Familial Transthyretin Amyloid Polyneuropathy.

Lanoue J et al.

The American Journal of Dermatopathology, 2016

"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.

Conceição I et al.

Journal of the Peripheral Nervous System : Jpns, 2016

Frequencies and geographic distributions of genetic mutations in transthyretin- and non-transthyretin-related familial amyloidosis.

Zhen DB et al.

Clinical Genetics, 2015

Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies.

Jamet MP et al.

The American Journal of Surgical Pathology, 2015

Hereditary ATTR amyloidosis: a single-institution experience with 266 patients.

Swiecicki PL et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2015

Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review.

Martins AC et al.

Biomed Research International, 2015

Macular and optic disc edema and retinal vascular leakage in familial amyloid polyneuropathy with a transthyretin Val30Met mutation: a case report.

Dias-Santos A et al.

Journal of Medical Case Reports, 2014

[Hereditary transthyretin amyloidosis].

Hund E

Der Nervenarzt, 2014

[Amyloid polyneuropathies--biochemical and genetic aspects].

Delpech M et al.

Bulletin De L'academie Nationale De Medecine, 2012

Genotype--phenotype correlation in FAP.

Zeldenrust SR

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2012

Familial amyloid polyneuropathy associated with nodular lumbosacral radiculoplexopathy.

Sole G et al.

Journal of the Peripheral Nervous System : Jpns, 2012

Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis.

Hund E

The Application of Clinical Genetics, 2012

Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissue.

Klein CJ et al.

Archives of Neurology, 2011

Amyloidogenic potential of transthyretin variants: insights from structural and computational analyses.

Cendron L et al.

The Journal of Biological Chemistry, 2009

[The diagnosis and management of familial amyloid polyneuropathy].

Planté-Bordeneuve V

Revue Neurologique, 2006

Biochemical characterization of vitreous and cardiac amyloid in Ile84Ser transthyretin amyloidosis.

Liepnieks JJ et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2006

Amyloid neuropathy: a retrospective study of 35 peripheral nerve biopsies.

Vital C et al.

Journal of the Peripheral Nervous System : Jpns, 2004

Hereditary and acquired amyloid neuropathies.

Adams D

Journal of Neurology, 2001

Transthyretin related familial amyloid polyneuropathy.

Planté-Bordeneuve V et al.

Current Opinion in Neurology, 2000

Cerebrovascular involvement in systemic AA and AL amyloidosis: a clear haematogenic pattern.

Schröder R et al.

Virchows Archiv : an International Journal of Pathology, 1999

[Hereditary amyloidosis].

Schmidt HH et al.

Der Internist, 1999

Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.

Brett M et al.

Brain : a Journal of Neurology, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."