Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q531fs
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NF1

NM_001042492.3:p.Q531fs

Associated Papers

Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.

Wang K et al.

Journal of Human Genetics, 2025

Targeted Sequencing Revealed Distinct Mutational Profiles of Ocular and Extraocular Sebaceous Carcinomas.

Na HY et al.

Cancers, 2021

34638295 (PubMed )
Supplement: cancers-13-04810-s001.zip › cancers-1366838-supplementary.xlsx › Table_S4.
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