Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.D112D
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PROKR2

NM_144773.4:p.D112D

Associated Papers

A rare combination of hypogonadotropic hypogonadism, GH deficiency and rectal atresia in a female with an FGFR1 variant: a case report and systematic review of the literature.

Alexandraki KI et al.

Endocrine, 2025

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.

Raivio T et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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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."