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Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa Via Effects on Splicing.

Syed Ashraf Uddin,Nicole Cesarato,Aytaj Humbatova,Axel Schmidt,Fazal Ur Rehman,Muhammad Naeem,Sabrina Wolf,Abdul Samad Tareen,Muhammad Anwar Panezai,Holger Thiele,Abdul Wali,Regina Foelster-Holst,Sulman Basit,Muhammad Ayub,Regina C. Betz

Acta Dermato Venereologica（2020）

引用 2|浏览15
关键词
epidermolysis bullosa,exome sequencing,missense mutation,splicing,COL7A1
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