Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.A422fs
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NF1

NM_001042492.3:p.A422fs

Associated Papers

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

Wimmer K et al.

Human Mutation, 2020

32126153 (PubMed )
Supplement: HUMU-41-1145-s001.xlsx › Suppl._Table_S1
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