Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.

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Title: Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.
Authors: Stringer, Robin N.1 (AUTHOR), Tang, Xuechen2 (AUTHOR), Jurkovicova-Tarabova, Bohumila3,4 (AUTHOR), Murphy, Mary5 (AUTHOR), Liedl, Klaus R.2 (AUTHOR), Weiss, Norbert1,3 (AUTHOR) nalweiss@gmail.com
Source: Molecular Brain. 3/25/2025, Vol. 18 Issue 1, p1-5. 5p.
Database: Academic Search Ultimate
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  Data: Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.
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  Data: <searchLink fieldCode="AR" term="%22Stringer%2C+Robin+N%2E%22">Stringer, Robin N.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tang%2C+Xuechen%22">Tang, Xuechen</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jurkovicova-Tarabova%2C+Bohumila%22">Jurkovicova-Tarabova, Bohumila</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Murphy%2C+Mary%22">Murphy, Mary</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Liedl%2C+Klaus+R%2E%22">Liedl, Klaus R.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Weiss%2C+Norbert%22">Weiss, Norbert</searchLink><relatesTo>1,3</relatesTo> (AUTHOR)<i> nalweiss@gmail.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Molecular+Brain%22">Molecular Brain</searchLink>. 3/25/2025, Vol. 18 Issue 1, p1-5. 5p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=184008267
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1186/s13041-025-01195-w
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      – Code: eng
        Text: English
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      – TitleFull: Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.
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            NameFull: Stringer, Robin N.
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            NameFull: Tang, Xuechen
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            NameFull: Jurkovicova-Tarabova, Bohumila
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              Text: 3/25/2025
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              Y: 2025
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