Varaico: Literature-Extracted Genetic Variants

Gene:CCDC141
Variant:p.H1464R
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CCDC141

NM_173648.4:p.H1464R

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

DLG2 Mutations in the Etiology of Pubertal Delay and Idiopathic Hypogonadotropic Hypogonadism.

Turan I et al.

Hormone Research in Paediatrics, 2021

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.

Turan I et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."