article_metadata: Shamsudheen Karuthedath Vellarikkal Rijith Jayarajan Ankit Verma Sreelata Nair Rowmika Ravi Vigneshwar Senthivel Sridhar Sivasubbu Vinod Scaria
article_metadata: 10.12688/f1000research.8380.2
article_metadata: F1000Res
article_metadata: 2016 May 17;5:900.
article_metadata: collagen vii mutation dystrophic epidermolysis bullosa simplex whole exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/27408687/
article_metadata: PMC4926754
article_metadata: 27408687
article_metadata: Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
article_metadata: 2016