Varaico: Literature-Extracted Genetic Variants

Gene:GNAL
Variant:p.K113*
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GNAL

NM_182978.4:p.K113*

Associated Papers

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.

Thomsen M et al.

Annals of Clinical and Translational Neurology, 2025

40533913 (PubMed )
Supplement: ACN3-12-1648-s002.xlsx › Table_2_-_Pathogenic_vars

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Thomsen M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677454 (PubMed )
Supplement: media-1.xlsx › Table_2_-_Pathogenic_vars

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Kumar KR et al.

Parkinsonism & Related Disorders, 2019

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