Varaico: Literature-Extracted Genetic Variants

Gene:MASP1
Variant:p.R637L
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MASP1

NM_139125.4:p.R637L

Associated Papers

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Sirmaci A et al.

American Journal of Human Genetics, 2010

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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."