Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.T290_V291Splc
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EVC2

NM_147127.5:p.T290_V291Splc

Associated Papers

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.

Jiang M et al.

Frontiers in Genetics, 2025

40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1

Genetic analysis of 55 cases with fetal skeletal dysplasia.

Bai Y et al.

Orphanet Journal of Rare Diseases, 2022

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