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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RSF1

Variant:p.S250_K252delFs

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RSF1

NM_016578.4:p.S250_K252delFs

hg38:chr11:77702473 CTTTTCACT>C

Associated Papers

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Jost C et al.

European Journal of Human Genetics : Ejhg, 2026

41606215 (PubMed )

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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."