Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.T2382M
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CHD7

NM_017780.4:p.T2382M

Associated Papers

Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.

Wang Z et al.

Genetics Research, 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."