Varaico: Literature-Extracted Genetic Variants

Gene:ALDH6A1
Variant:p.I14V
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ALDH6A1

NM_005589.4:p.I14V

Associated Papers

Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Zhou YY et al.

Frontiers in Genetics, 2022

35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R

Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.

Yang D et al.

Frontiers in Genetics, 2021

34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5
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