Varaico: Literature-Extracted Genetic Variants

Gene:BCAP31
Variant:p.V8I
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BCAP31

NM_001256447.2:p.V8I

Associated Papers

An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.

Paucar M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Malmgren H et al.

Frontiers in Genetics, 2025

40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1

Functional Role of N- and C-Terminal Amino Acids in the Structural Subunits of Colonization Factor CS6 Expressed by Enterotoxigenic Escherichia coli.

Debnath A et al.

Journal of Bacteriology, 2016

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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."