Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.L150_Y151Splc
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EVC2

NM_147127.5:p.L150_Y151Splc

Associated Papers

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Scocchia A et al.

Orphanet Journal of Rare Diseases, 2021

34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM1_ESM.xlsx › Sheet2
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