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Q34506328-3E37485D-DFB3-4821-A1F0-D0EAECD1E672
Q34506328-3E37485D-DFB3-4821-A1F0-D0EAECD1E672
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http://www.wikidata.org/entity/statement/Q34506328-3E37485D-DFB3-4821-A1F0-D0EAECD1E672
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
P2860
Q34506328-3E37485D-DFB3-4821-A1F0-D0EAECD1E672
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34506328-3E37485D-DFB3-4821-A1F0-D0EAECD1E672
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wasDerivedFrom
c418595668cad3d0307e7112513dba2bacf565f2
P2860
A phenotypic variant of Knobloch syndrome.