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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.
Am J Hum Genet. 2017.
PMID: 28041643
Free PMC article.
Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510.
Vallespin E, Cantalapiedra D, Garcia-Hoyos M, Riveiro R, Villaverde C, Trujillo-Tiebas MJ, Ayuso C.
Vallespin E, et al.
Hum Genet. 2006 Feb;118(6):774.
Hum Genet. 2006.
PMID: 17297678
No abstract available.
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