Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.D300H
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LMNA

NM_170707.4:p.D300H

Associated Papers

Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

Besci O et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome.

Jang S et al.

Frontiers in Pediatrics, 2022

Mutations Involved in Premature-Ageing Syndromes.

Coppedè F

The Application of Clinical Genetics, 2021

Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations.

Kandhaya-Pillai R et al.

Aging Pathobiology and Therapeutics, 2020

Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.

He G et al.

Endocrine Journal, 2019

Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA.

Yanhua X et al.

Frontiers in Endocrinology, 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."