Varaico: Literature-Extracted Genetic Variants

Gene:GALNT9
Variant:p.R443C
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GALNT9

NM_001122636.2:p.R443C

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
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