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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GDAP1

Variant:p.Y117fs

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GDAP1

NM_018972.4:p.Y117fs

hg38:chr8:74360175 TAT>N

Associated Papers

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.

Krenn M et al.

European Journal of Neurology, 2020

31407473 (PubMed )

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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."