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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HAND1

Variant:p.R118C

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HAND1

NM_004821.3:p.R118C

hg38:chr5:154477657 G>A

Associated Papers

HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.

Wang J et al.

Pediatric Cardiology, 2017

27942761 (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."