Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.R332Splc
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BCKDHA

NM_000709.4:p.R332Splc

Associated Papers

A comprehensive analysis of germline predisposition to early-onset ovarian cancer.

Horackova K et al.

Scientific Reports, 2024

39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list

Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing.

Klugman S et al.

Genetic Testing and Molecular Biomarkers, 2013

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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."