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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS6

Variant:p.A133V

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HPS6

NM_024747.6:p.A133V

hg38:chr10:102065872 C>T

Associated Papers

Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.

Golbus JR et al.

Circulation. Cardiovascular Genetics, 2014

25179549 (PubMed )

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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."