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Q52113860-42B48798-4138-4758-B914-D4EF727BC2E4
Q52113860-42B48798-4138-4758-B914-D4EF727BC2E4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52113860-42B48798-4138-4758-B914-D4EF727BC2E4
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
P2860
Q52113860-42B48798-4138-4758-B914-D4EF727BC2E4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52113860-42B48798-4138-4758-B914-D4EF727BC2E4
rank
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Statement
wasDerivedFrom
fdd234ddb5a6e813b4bd3a4210da7cb5748cf1e5
P2860
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassingSOX2