Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.F491S
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GALC

NM_001201401.2:p.F491S

Associated Papers

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.

Kausthubham N et al.

Human Mutation, 2021

Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.

D TK et al.

Journal of Biomolecular Structure & Dynamics, 2021

Screening for Krabbe disease: The first 2 years' experience.

Pannuzzo G et al.

Acta Neurologica Scandinavica, 2019

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
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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."