Varaico: Literature-Extracted Genetic Variants

Gene:SCAF4
Variant:p.W630*
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SCAF4

NM_020706.2:p.W630*

Associated Papers

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Schmid CM et al.

European Journal of Human Genetics : Ejhg, 2025

39668183 (PubMed )
Supplement: 41431_2024_1760_MOESM2_ESM.xlsx › Tabelle1

SCAF4 variants associated with focal epilepsy accompanied by multisystem disorders.

Lin H et al.

Seizure, 2024

SCAF4-related syndromic intellectual disability.

Carvalho LML et al.

American Journal of Medical Genetics. Part A, 2023

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