Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.V297I
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PROKR2

NM_144773.4:p.V297I

Associated Papers

Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.

Stamou MI et al.

Human Genetics, 2025

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.

Wang X et al.

Human Molecular Genetics, 2023

Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.

Martinez-Mayer J et al.

Frontiers in Endocrinology, 2023

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.

Gach A et al.

Archives of Medical Science : Ams, 2022

A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.

Yan L et al.

Biomed Research International, 2021

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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."