Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R39H
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TWNK

NM_021830.5:p.R39H

Associated Papers

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

Hüffmeier U et al.

Orphanet Journal of Rare Diseases, 2021

33736665 (PubMed )
Supplement: 13023_2021_1744_MOESM1_ESM.xls › Tabelle1
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