Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.Y280delFs
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GDAP1

NM_018972.4:p.Y280delFs

Associated Papers

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.

Aslam F et al.

Scientific Reports, 2026

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Zimoń M et al.

Neurogenetics, 2015

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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."