Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Q2426*
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CHD7

NM_017780.4:p.Q2426*

Associated Papers

Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.

Biard JM et al.

European Journal of Medical Genetics, 2021

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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