Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.R2400W
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CHD7

NM_017780.4:p.R2400W

Associated Papers

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.

Neocleous V et al.

Orphanet Journal of Rare Diseases, 2024

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature.

Neocleous V et al.

Frontiers in Endocrinology, 2020

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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."