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Q55718037-7A953993-3016-458A-A390-ED82316AE65C
Q55718037-7A953993-3016-458A-A390-ED82316AE65C
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http://www.wikidata.org/entity/statement/Q55718037-7A953993-3016-458A-A390-ED82316AE65C
The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.
P2860
Q55718037-7A953993-3016-458A-A390-ED82316AE65C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55718037-7A953993-3016-458A-A390-ED82316AE65C
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168caf445d2ea519f78f76ad6409702bad00ca50
P2860
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.