Varaico: Literature-Extracted Genetic Variants

Gene:SCAF4
Variant:p.E10_L11Splc
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SCAF4

NM_020706.2:p.E10_L11Splc

Associated Papers

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Schmid CM et al.

European Journal of Human Genetics : Ejhg, 2025

A novel nonsense mutation in SCAF4 associated with fliedner-zweier syndrome: a case report and review of the literature.

Chen Z et al.

Frontiers in Genetics, 2025

40290495 (PubMed )
Supplement: Table1.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."