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Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
Wakeling, Matthew Neil, Laver, Thomas William, Wright, Caroline Fiona, De Franco, Elisa, Stals, Karen Lucy, Patch, Ann-Marie, Hattersley, Andrew Tym, Flanagan, Sarah Elizabeth, Ellard, SianLanguage:
english
Journal:
Genetics in Medicine
DOI:
10.1038/s41436-018-0281-4
Date:
October, 2018
File:
PDF, 343 KB
english, 2018