Associated Papers
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_2.XLSX › patient_5
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S et al.
Nature Genetics, 2015
25751627 (PubMed )
Supplement: NIHMS62156-supplement-4.xlsx › ExAC_variants
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