Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.K211del1
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FRG1

NM_004477.3:p.K211del1

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: Table1.XLS › Sheet

Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing.

Xing J et al.

Open Life Sciences, 2023

37215497 (PubMed )
Supplement: biol-2022-0593-sm.pdf
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