Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.E443K
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ALG1

NM_019109.5:p.E443K

Associated Papers

Genetic analysis of 55 cases with fetal skeletal dysplasia.

Bai Y et al.

Orphanet Journal of Rare Diseases, 2022

36352425 (PubMed )
Supplement: 13023_2022_2559_MOESM1_ESM.xlsx › Table_S3.
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