Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Y182fs
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NF1

NM_001042492.3:p.Y182fs

Associated Papers

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Ognibene M et al.

Cancers, 2023

Transposable element insertions in 1000 Swedish individuals.

Bilgrav Saether K et al.

Plos One, 2023

37506127 (PubMed )
Supplement: pone.0289346.s002.xlsx › Table_7

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."