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Q34506328-2CB1FCC0-C8C7-4EC5-885F-F0CA64F80080
Q34506328-2CB1FCC0-C8C7-4EC5-885F-F0CA64F80080
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Statement
http://www.wikidata.org/entity/statement/Q34506328-2CB1FCC0-C8C7-4EC5-885F-F0CA64F80080
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
P2860
Q34506328-2CB1FCC0-C8C7-4EC5-885F-F0CA64F80080
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34506328-2CB1FCC0-C8C7-4EC5-885F-F0CA64F80080
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wasDerivedFrom
ae0ea9e548d14d3dc4d0f70a1077ce0b05b153f2
P2860
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.