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Q55718037-40664826-F370-476E-9192-B49BF8FFC11B
Q55718037-40664826-F370-476E-9192-B49BF8FFC11B
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http://www.wikidata.org/entity/statement/Q55718037-40664826-F370-476E-9192-B49BF8FFC11B
The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.
P2860
Q55718037-40664826-F370-476E-9192-B49BF8FFC11B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55718037-40664826-F370-476E-9192-B49BF8FFC11B
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168caf445d2ea519f78f76ad6409702bad00ca50
P2860
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations