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Q30852636-C1E6B61C-AF8B-4D40-A5C5-FF0F3E9F7CDD
Q30852636-C1E6B61C-AF8B-4D40-A5C5-FF0F3E9F7CDD
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http://www.wikidata.org/entity/statement/Q30852636-C1E6B61C-AF8B-4D40-A5C5-FF0F3E9F7CDD
A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets
P2860
Q30852636-C1E6B61C-AF8B-4D40-A5C5-FF0F3E9F7CDD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30852636-C1E6B61C-AF8B-4D40-A5C5-FF0F3E9F7CDD
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wasDerivedFrom
818f1965f67fe71462a8beb342c384ccfabb36de
P2860
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.