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Q55491245-2BC8C5E5-D576-4D80-8789-F0E40D6B0AD2
Q55491245-2BC8C5E5-D576-4D80-8789-F0E40D6B0AD2
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Statement
http://www.wikidata.org/entity/statement/Q55491245-2BC8C5E5-D576-4D80-8789-F0E40D6B0AD2
Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.
P2860
Q55491245-2BC8C5E5-D576-4D80-8789-F0E40D6B0AD2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55491245-2BC8C5E5-D576-4D80-8789-F0E40D6B0AD2
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Statement
wasDerivedFrom
0b516a4f8967097c9c4642f41a4c413128466d7a
P2860
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.