Varaico: Literature-Extracted Genetic Variants

Gene:RRM2
Variant:p.F126delFs
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RRM2

NM_001034.4:p.F126delFs

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 )
Supplement: mmc3.pdf
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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."