Varaico: Literature-Extracted Genetic Variants

Gene:EPN3
Variant:p.P461S
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EPN3

NM_017957.3:p.P461S

Associated Papers

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.

Ben Hadj Hmida I et al.

Fertility and Sterility, 2016

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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."