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Q37172916-D9E5A82C-5D2C-4456-AF21-C4ADBB54D788
Q37172916-D9E5A82C-5D2C-4456-AF21-C4ADBB54D788
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http://www.wikidata.org/entity/statement/Q37172916-D9E5A82C-5D2C-4456-AF21-C4ADBB54D788
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
P2860
Q37172916-D9E5A82C-5D2C-4456-AF21-C4ADBB54D788
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37172916-D9E5A82C-5D2C-4456-AF21-C4ADBB54D788
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67d40bb1db91a8a1a14963aad1a8b2ff30deb5c8
P2860
In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.