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Keyword: Whole exon sequencing

1	Townes–Brocks syndrome with adult renal impairment in a Chinese family: A case report 8/16/2023 6:59:21 AM \| Browse: 261 \| Download: 1018
2	Identification of 1q21.1 microduplication in a family: A case report 2/6/2023 6:38:44 AM \| Browse: 324 \| Download: 1148
3	Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report 1/15/2022 12:57:35 PM \| Browse: 405 \| Download: 1421