Varaico: Literature-Extracted Genetic Variants

Gene:HUWE1
Variant:p.R3957C
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HUWE1

NM_031407.7:p.R3957C

Associated Papers

Novel HUWE1-Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion.

Dai Y et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2026

Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Cannizzaro IR et al.

International Journal of Molecular Sciences, 2024

39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP
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