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Filters: Keyword is Mutation and Author is Chen, Xue [Clear All Filters]
Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia. J Transl Med. 2015 ;13:179.
. Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. Hum Mol Genet. 2018 ;27(23):4157-4168.
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