Varaico: Literature-Extracted Genetic Variants

Gene:SPDYE21
Variant:p.W171insFs
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SPDYE21

NM_001382715.2:p.W171insFs

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
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