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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEX16

Variant:p.H185Y

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PEX16

NM_004813.4:p.H185Y

hg38:chr11:45914457 G>A

Associated Papers

A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report.

Gao G et al.

Medicine, 2020

32846832 (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."