Varaico: Literature-Extracted Genetic Variants

Gene:GDF1
Variant:p.V130I
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GDF1

NM_001492.6:p.V130I

Associated Papers

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

Karkera JD et al.

American Journal of Human Genetics, 2007

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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."