Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q181fs
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NF1

NM_001042492.3:p.Q181fs

Associated Papers

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.

Vernimmen V et al.

Human Reproduction (oxford, England), 2026

41289058 (PubMed )
Supplement: deaf224_supplementary_table_s1.pdf

Identification of a Novel NF1 Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1.

Xu G et al.

Biomed Research International, 2019

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

Bonatti F et al.

International Journal of Molecular Sciences, 2017

28961165 (PubMed )
Supplement: ijms-18-02071-s001.pdf
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