Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.V561M
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FAM20C

NM_020223.4:p.V561M

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: Table3.XLSX › Sheet1

Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.

Qin L et al.

Scientific Reports, 2018

30143665 (PubMed )
Supplement: 41598_2018_30940_MOESM1_ESM.pdf
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