Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.M968R
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NF1

NM_001042492.3:p.M968R

Associated Papers

Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.

Kocabey M et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023

WITHDRAWN: Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey.

Demir Gündoğan B et al.

Turkish Journal of Medical Sciences, 2021

Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.

Ben Aim L et al.

Journal of Medical Genetics, 2019

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

De Luca A et al.

Human Mutation, 2004

NF1 gene analysis based on DHPLC.

De Luca A et al.

Human Mutation, 2003

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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."