Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.V20M
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SRSF1

NM_006924.5:p.V20M

Associated Papers

Brr2p-mediated unwinding of U4/U6 is promoted by a mutually exclusive intra-molecular stem loop in U4 and involves destabilization of the 5' stem-loop of U4.

Nielsen KH et al.

Biorxiv : the Preprint Server for Biology, 2025

Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder.

Marques AR et al.

Biomedicines, 2022

35327467 (PubMed )
Supplement: biomedicines-10-00665-s001.zip › Supplementary_tables.xlsx › Suppl_Table_S3
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