Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.I183fs
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NF1

NM_001042492.3:p.I183fs

Associated Papers

Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies.

Huang J et al.

Scientific Reports, 2025

Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.

Fei H et al.

Orphanet Journal of Rare Diseases, 2025

Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1.

García-Díaz JD et al.

Pediatric Dermatology, 0

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