Varaico: Literature-Extracted Genetic Variants

Gene:EVC
Variant:p.P551fs
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EVC

NM_153717.3:p.P551fs

Associated Papers

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Altunoglu U et al.

Journal of Medical Genetics, 2024

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