Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.

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Title: Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
Authors: Beaman, M. Makenzie1,2,3, Yin, Weining4, Smith, Amanda J.4, Sears, Patrick R.4, Leigh, Margaret W.4,5, Ferkol, Thomas W.4,5, Kearney, Brendan6,7, Olivier, Kenneth N.4,8, Kimple, Adam J.4,9, Clarke, Shannon6,7, Huggins, Erin1, Nading, Erica1, Jung, Seung‐Hye1, Iyengar, Apoorva K.3,6,7, Zou, Xue6,7,10, Dang, Hong4, Barrera, Alejandro6,7, Majoros, William H.6,7, Rehder, Catherine W.11, Reddy, Timothy E.6,7
Source: American Journal of Medical Genetics. Part A; Feb2025, Vol. 197 Issue 2, p1-12, 12p
Database: Applied Science & Technology Source
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DbLabel: Applied Science & Technology Source
An: 182049299
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PubType: Academic Journal
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  Data: Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
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  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Feb2025, Vol. 197 Issue 2, p1-12, 12p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=182049299
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        Value: 10.1002/ajmg.a.63880
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        Text: English
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      – TitleFull: Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
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              Text: Feb2025
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              Y: 2025
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