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A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.

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Title: A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.
Authors: Dinçer T; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Gümüş E; Department of Medical Genetics, Faculty of Medicine, Muğla Sıtkı Koçman University, Muğla, Turkey., Toraman B; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Er İ; Department of Medical Biology, Institute of Health Science, Karadeniz Technical University, Trabzon, Turkey., Yildiz G; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Yüksel Z; Department of Human Genetics, Bioscientia GmbH, Ingelheim, Germany., Kalay E; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1691-1699. Date of Electronic Publication: 2021 Mar 13.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Dinçer+T%22">Dinçer T</searchLink>; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.<br /><searchLink fieldCode="AU" term="%22Gümüş+E%22">Gümüş E</searchLink>; Department of Medical Genetics, Faculty of Medicine, Muğla Sıtkı Koçman University, Muğla, Turkey.<br /><searchLink fieldCode="AU" term="%22Toraman+B%22">Toraman B</searchLink>; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.<br /><searchLink fieldCode="AU" term="%22Er+İ%22">Er İ</searchLink>; Department of Medical Biology, Institute of Health Science, Karadeniz Technical University, Trabzon, Turkey.<br /><searchLink fieldCode="AU" term="%22Yildiz+G%22">Yildiz G</searchLink>; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.<br /><searchLink fieldCode="AU" term="%22Yüksel+Z%22">Yüksel Z</searchLink>; Department of Human Genetics, Bioscientia GmbH, Ingelheim, Germany.<br /><searchLink fieldCode="AU" term="%22Kalay+E%22">Kalay E</searchLink>; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1691-1699. <i>Date of Electronic Publication: </i>2021 Mar 13.
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        Value: 10.1002/ajmg.a.62154
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              Text: 2021 Jun
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