Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q1370delins
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NF1

NM_001042492.3:p.Q1370delins

Associated Papers

Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.

Martorana D et al.

European Journal of Medical Genetics, 2023

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
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