ArticleMolecular genetics & genomic medicine2019

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.

Amir Hossein Saeidian et al.PubMed ↗Full text ↗Publisher ↗

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