Varaico: Literature-Extracted Genetic Variants

Gene:DNAI2
Variant:p.V42M
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DNAI2

NM_023036.6:p.V42M

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

Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China.

Li Y et al.

Bmc Pediatrics, 2022

35804324 (PubMed )
Supplement: 12887_2022_3469_MOESM2_ESM.xlsx › __38_________2_
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