Varaico: Literature-Extracted Genetic Variants

Gene:FAM47B
Variant:p.L131L
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FAM47B

NM_152631.3:p.L131L

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: Table2.XLSX › Sheet1
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