Article

Millennium-old Pathogenic Mendelian Mutation Discovery for Multiple Osteochondromas from a Gaelic Medieval Graveyard

2022-02-03

Abstract excerpt

<h4>Summary</h4> Only a limited number of genetic diseases are diagnosable in archaeological individuals and none have had causal mutations identified in genome-wide screens. Two individuals from the Gaelic Irish Medieval burial ground of Ballyhanna, Co. Donegal, showed evidence of bone tumors consistent with the autosomal dominant condition multiple osteochondromas. Genome sequencing of the earlier individual un...

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Literature Corpus work: 8bdc4a59-b061-55b6-9010-22f6ecab5b14
DOI: 10.1101/2022.02.02.478802

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