Varaico: Literature-Extracted Genetic Variants

Gene:WDR47
Variant:p.R193H
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WDR47

NM_001142551.2:p.R193H

Associated Papers

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

Bayam E et al.

Embo Molecular Medicine, 2025

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_MOESM2_ESM.pdf
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