Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.G629_V630del2
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NF1

NM_001042492.3:p.G629_V630del2

Associated Papers

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

Koster R et al.

Npj Genomic Medicine, 2021

34782607 (PubMed )
Supplement: 41525_2021_258_MOESM5_ESM.xlsx › replication_raw_data
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