Varaico: Literature-Extracted Genetic Variants

Gene:AKAP12
Variant:p.K1218I
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AKAP12

NM_005100.4:p.K1218I

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

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.

Zhao Y et al.

Plos One, 2013

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