Varaico: Literature-Extracted Genetic Variants

Gene:OR12D3
Variant:p.R129P
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OR12D3

NM_030959.3:p.R129P

Associated Papers

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

Vissers LE et al.

European Journal of Human Genetics : Ejhg, 2015

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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."