Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L993*
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NF1

NM_001042492.3:p.L993*

Associated Papers

Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations.

Kim S et al.

Medcomm, 2025

Identification of Genomic Alterations in Sporadic Pancreatic Neurogenic Tumors.

Wang XY et al.

Pancreas, 0

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