Varaico: Literature-Extracted Genetic Variants

Gene:GDAP2
Variant:p.H400insFs
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GDAP2

NM_017686.4:p.H400insFs

Associated Papers

Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family.

Erro ME et al.

Neurology. Genetics, 2025

A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.

Breza M et al.

Brain : a Journal of Neurology, 2020

Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.

Dong HL et al.

Brain : a Journal of Neurology, 2020

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Eidhof I et al.

Brain : a Journal of Neurology, 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."