Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.V2628_F2629delFs
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NF1

NM_000267.3:p.V2628_F2629delFs

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

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

Napolitano F et al.

Genes, 2022

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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