Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.A2536_E2537Splc
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CHD7

NM_017780.4:p.A2536_E2537Splc

Associated Papers

Functional Validation and Phenotypic Spectrum of Splice-Site Variants in CHD7, FGFR1, and ANOS1 in Congenital Hypogonadotropic Hypogonadism.

Li Y et al.

Clinical Genetics, 2025

Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.

Li JD et al.

The Journal of Clinical Endocrinology and Metabolism, 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."