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Q33714416-007D13AB-7FAA-4C3D-9E36-C2806486DAAD
Q33714416-007D13AB-7FAA-4C3D-9E36-C2806486DAAD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33714416-007D13AB-7FAA-4C3D-9E36-C2806486DAAD
Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.
P2860
Q33714416-007D13AB-7FAA-4C3D-9E36-C2806486DAAD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33714416-007D13AB-7FAA-4C3D-9E36-C2806486DAAD
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wasDerivedFrom
0c7f1a5fa23c206fabd42fbdde9b0be4ac490840
P2860
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.