Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.P30S
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CHD7

NM_017780.4:p.P30S

Associated Papers

Precise correction of a spectrum of β-thalassemia mutations in coding and non-coding regions by base editors.

Prasad K et al.

Molecular Therapy. Nucleic Acids, 2024

38817682 (PubMed )
Supplement: mmc3.pdf

Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.

Wang Y et al.

Frontiers in Endocrinology, 2022

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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."