Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K1423M
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NF1

NM_000267.3:p.K1423M

Associated Papers

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Pacot L et al.

Journal of Medical Genetics, 2025

Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach.

Agrahari AK et al.

Metabolic Brain Disease, 2018

Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.

Patil V et al.

Oncotarget, 2015

26496030 (PubMed )
Supplement: oncotarget-06-43452-s005.xlsx › Supplementary_table_S4
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