Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome.

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Title: Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome.
Authors: Filatova, Alexandra1, Freire, Valeria1, Bessonova, Ludmila1, Skoblov, Mikhail1,2, Lozier, Ekaterina3, Konovalov, Fedor3, Kanivets, Ilya3, Korostelev, Sergey3, Iudina, Elena3, Gnetetskaya, Valentina3
Source: Clinical Genetics. Mar2019, Vol. 95 Issue 3, p440-441. 2p. 1 Graph.
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  Data: Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome.
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  Data: <searchLink fieldCode="AR" term="%22Filatova%2C+Alexandra%22">Filatova, Alexandra</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Freire%2C+Valeria%22">Freire, Valeria</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Bessonova%2C+Ludmila%22">Bessonova, Ludmila</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Skoblov%2C+Mikhail%22">Skoblov, Mikhail</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22Lozier%2C+Ekaterina%22">Lozier, Ekaterina</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Konovalov%2C+Fedor%22">Konovalov, Fedor</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Kanivets%2C+Ilya%22">Kanivets, Ilya</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Korostelev%2C+Sergey%22">Korostelev, Sergey</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Iudina%2C+Elena%22">Iudina, Elena</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Gnetetskaya%2C+Valentina%22">Gnetetskaya, Valentina</searchLink><relatesTo>3</relatesTo>
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  Data: <searchLink fieldCode="JN" term="%22Clinical+Genetics%22">Clinical Genetics</searchLink>. Mar2019, Vol. 95 Issue 3, p440-441. 2p. 1 Graph.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=134778397
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        Value: 10.1111/cge.13472
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              Text: Mar2019
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              Y: 2019
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