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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KISS1R

Variant:p.S192C

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KISS1R

NM_032551.5:p.S192C

hg38:chr19:919942 A>T

Associated Papers

KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.

Xu C et al.

Embo Molecular Medicine, 2017

28754744 (PubMed )

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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."