Varaico: Literature-Extracted Genetic Variants

Gene:MACC1
Variant:p.S551G
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MACC1

NM_182762.4:p.S551G

Associated Papers

A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals.

Rivas VN et al.

Plos Genetics, 2020

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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."