Associated Papers
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 › HL2
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.
Iwasawa S et al.
Molecular Genetics and Metabolism, 2019
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