Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K1290_V1291Splc
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NF1

NM_001042492.3:p.K1290_V1291Splc

Associated Papers

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Usui Y et al.

Cancer Science, 2022

36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf

Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Lucas CG et al.

Acta Neuropathologica, 2022

35945463 (PubMed )
Supplement: 401_2022_2478_MOESM1_ESM.xlsx › Table_S5

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

Pros E et al.

Human Mutation, 2008

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