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Q41760775-52B01C90-F5F2-4F42-B29D-3E6812332A3F
Q41760775-52B01C90-F5F2-4F42-B29D-3E6812332A3F
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http://www.wikidata.org/entity/statement/Q41760775-52B01C90-F5F2-4F42-B29D-3E6812332A3F
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.
P2860
Q41760775-52B01C90-F5F2-4F42-B29D-3E6812332A3F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41760775-52B01C90-F5F2-4F42-B29D-3E6812332A3F
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Statement
wasDerivedFrom
d87fac420fc7df3ee3eeab309301123ed1e784b1
P2860
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B