Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q20H
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NF1

NM_001042492.3:p.Q20H

Associated Papers

Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series.

Paz-Cruz E et al.

Medwave, 2026

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.

Bonetti E et al.

Human Genomics, 2025

40887659 (PubMed )
Supplement: 40246_2025_803_MOESM3_ESM.xlsx › Sheet_1

Characterizing neurofibromin 1-altered breast cancer through genomic, functional, and clinical analyses.

Mao X et al.

Virchows Archiv : an International Journal of Pathology, 2025

Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures.

Fang D et al.

Frontiers in Genetics, 2024

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.

Giugliano T et al.

Genes, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."