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Q40063882-516BC9C6-7D2C-41FD-B160-2BB8110DD412
Q40063882-516BC9C6-7D2C-41FD-B160-2BB8110DD412
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Statement
http://www.wikidata.org/entity/statement/Q40063882-516BC9C6-7D2C-41FD-B160-2BB8110DD412
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
P2860
Q40063882-516BC9C6-7D2C-41FD-B160-2BB8110DD412
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40063882-516BC9C6-7D2C-41FD-B160-2BB8110DD412
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wasDerivedFrom
9f6721623d29f759d92d40a5c99d4faed29cfae8
P2860
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene