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Short Case Reports

Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa

Rehman, Atta Ura; Peter, Virginie G.a; Quinodoz, Mathieua; Dawood, Muhammadb; Rivolta, Carloa,,c,,d,,e

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doi: 10.1097/MCD.0000000000000299
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