Associated Papers
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.
Mattioli F et al.
Npj Genomic Medicine, 2021
34764295 (PubMed )
Supplement: 41525_2021_255_MOESM1_ESM.pdf
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 › HL4
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