Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.H118Y
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ERCC6

NM_000124.4:p.H118Y

Associated Papers

Rare variants modulating phenotype in NF1 carriers.

Pasquinelli E et al.

Scientific Reports, 2025

40653509 (PubMed )
Supplement: 41598_2025_9751_MOESM1_ESM.pdf

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL
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