Varaico: Literature-Extracted Genetic Variants

Gene:BCAP31
Variant:p.K176*
Back to variants list

BCAP31

NM_001256447.2:p.K176*

Associated Papers

Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III.

Huggins E et al.

Molecular Genetics and Metabolism Reports, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."