Varaico: Literature-Extracted Genetic Variants

Gene:RNF216
Variant:p.V249F
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RNF216

NM_207111.4:p.V249F

Associated Papers

Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.

Zhang J et al.

Frontiers in Endocrinology, 2024

SLIT2 Rare Sequencing Variants Identified in Idiopathic Hypogonadotropic Hypogonadism.

Wu J et al.

Hormone Research in Paediatrics, 2022

Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.

Men M et al.

Journal of Medical Genetics, 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."