Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q1315*
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NF1

NM_001042492.3:p.Q1315*

Associated Papers

Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1.

Corona-Rivera JR et al.

American Journal of Medical Genetics. Part A, 2023

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas.

Carrió M et al.

Stem Cell Reports, 2019

Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings.

Carrió M et al.

Human Mutation, 2018

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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."