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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRSF1

Variant:p.S126delFs

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SRSF1

NM_006924.5:p.S126delFs

hg38:chr17:58006343 CAG>C

Associated Papers

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Bogaert E et al.

American Journal of Human Genetics, 2023

37071997 (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."