Varaico: Literature-Extracted Genetic Variants

Gene:SCAF4
Variant:p.R488fs
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SCAF4

NM_020706.2:p.R488fs

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

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Tran Mau-Them F et al.

Frontiers in Genetics, 2023

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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."