Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Q1002*
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CHD7

NM_017780.4:p.Q1002*

Associated Papers

Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.

Onesimo R et al.

Genes, 2021

CHARGE syndrome in nine patients from China.

Cheng SSW et al.

American Journal of Medical Genetics. Part A, 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."