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ZNF527 GENE rs386809049 ANALYSIS IN POPULATION OF UKRAINE.

TSitologiia i genetika - 1 Jan 2000

Gulkovskyi R V, Chernushyn S Y, Kravchenko S A, Livshits L A

Abstract excerpt

It was shown that some mutations in a number of zinc finger protein (Znf) genes cause intellectual disability (ID). In our study in two affected siblings with ID exome analysis revealed the homozygous coding sequence (cds) indel rs386809049 in the ZNF527 gene. The c.806_808 deletion CAT and insertion TGTGCA (rs386809049) results in substitution of Pro269 and Tyr270 to Leu, Cys and Asn, located in the interdomain...

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PMID: 26419067

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CAT

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