Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.T321N
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ANXA11

NM_145868.2:p.T321N

Associated Papers

Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.

Ghayal NB et al.

Acta Neuropathologica, 2025

41225259 (PubMed )
Supplement: 401_2025_2958_MOESM1_ESM.xlsx › Sheet1

Genetic and in silico analysis of Indian sporadic young onset patient with amyotrophic lateral sclerosis.

Roychowdhury S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024

Presence of Rare Variants is Associated with Poorer Survival in Chinese Patients with Amyotrophic Lateral Sclerosis.

Dong S et al.

Phenomics (cham, Switzerland), 2023

An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review.

Zhang X et al.

Frontiers in Neurology, 2023

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP

ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia.

Wang Y et al.

Frontiers in Neurology, 2022

ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.

Nahm M et al.

Science Translational Medicine, 2020

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs

Genetic analysis of ANXA11 variants in a Han Chinese cohort with amyotrophic lateral sclerosis in Taiwan.

Tsai PC et al.

Neurobiology of Aging, 2018

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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."