Varaico: Literature-Extracted Genetic Variants

Gene:CPNE6
Variant:p.R398H
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CPNE6

NM_006032.4:p.R398H

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM17_ESM.xlsx › Sheet1

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Anazi S et al.

Molecular Psychiatry, 2017

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