Varaico: Literature-Extracted Genetic Variants

Gene:CCDC141
Variant:p.R724*
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CCDC141

NM_173648.4:p.R724*

Associated Papers

Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty.

Saengkaew T et al.

Npj Genomic Medicine, 2021

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.

Turan I et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration.

Hutchins BI et al.

Endocrinology, 2016

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