Varaico: Literature-Extracted Genetic Variants

Gene:CCAR2
Variant:p.Y828*
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CCAR2

NM_001393997.1:p.Y828*

Associated Papers

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

Lin SJ et al.

Genome Medicine, 2023

38031187 (PubMed )
Supplement: 13073_2023_1258_MOESM2_ESM.pdf

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 2017

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