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Paper Details

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
Genet Med
26
2019
Mendelian disease, homozygous region, homozygous regions, patients, recessive Mendelian disease, telomere
Author NameAffiliation
Caroline F WrightInstitute of Biomedical & Clinical Science, University of Exeter
Ann-Marie Patch
Ann-Marie Patch
Andrew T HattersleyInstitute of Biomedical & Clinical Science, University of Exeter
Sian EllardInstitute of Biomedical & Clinical Science, University of Exeter
Sian EllardRoyal Devon & Exeter NHS Foundation Trust
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