Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Y2629_T2630delFs
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NF1

NM_001042492.3:p.Y2629_T2630delFs

Associated Papers

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

35885913 (PubMed )
Supplement: genes-13-01130-s001.zip › genes-1726113-supplementary.pdf

Typical Chinese pedigree of autosomal dominant genetic disease: Neurofibromatosis type 1 with a novel frame-shift mutation.

Guo Y et al.

The Journal of Dermatology, 2017

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