Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.S137A
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CHD7

NM_017780.4:p.S137A

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

The Clinical and Genetic Characteristics in Children with Idiopathic Hypogonadotropin Hypogonadism.

Zhou Q et al.

Journal of Oncology, 2022

Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics.

Sun B et al.

Frontiers in Genetics, 2021

Variant analysis of the chromodomain helicase DNA-binding protein 7 in pediatric disorders of sex development.

Zhang B et al.

Pediatric Investigation, 2019

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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."