Varaico: Literature-Extracted Genetic Variants

Gene:BLTP2
Variant:p.H986Q
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BLTP2

NM_014680.5:p.H986Q

Associated Papers

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

Balasubramanian K et al.

American Journal of Medical Genetics. Part A, 2017

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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."