Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.R2035*
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CHD8

NM_001170629.2:p.R2035*

Associated Papers

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Wright CF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable2_NotReported
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