Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.D99_F100insFs
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PROKR2

NM_144773.4:p.D99_F100insFs

Associated Papers

Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism.

Méndez JP et al.

Endocrine Research, 2015

PROK2/PROKR2 Signaling and Kallmann Syndrome.

Dodé C et al.

Frontiers in Endocrinology, 2013

Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.

Abreu AP et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."