Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Q1675*
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CHD7

NM_017780.4:p.Q1675*

Associated Papers

CHARGE syndrome without colobomas: Ophthalmic findings.

Dosunmu EO et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_1.XLSX › P_or_LP_variants
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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."