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Compound Heterozygous ATM Variants Cause Adolescent‐Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family.

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Title: Compound Heterozygous ATM Variants Cause Adolescent‐Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family.
Authors: Aslam, Faiza1,2,3, Ji, Weizhen2, Jeffries, Lauren2, Wadhwa, Anant4, Konstantino, Monica2, Noman, Muhammad1, Bamford, Nigel S.4,5,6, Mis, Emily2, Lakhani, Saquib A.2,3, saquib.lakhani@csmc.edu, Naz, Sadaf1, naz.sbs@pu.edu.pk, Rawal, Neetu, nrawal@wiley.com
Source: Genetics Research; 6/25/2026, Vol. 2026, p1-8, 8p
Database: Applied Science & Technology Source
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Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 194917317
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Compound Heterozygous ATM Variants Cause Adolescent‐Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family.
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  Data: <searchLink fieldCode="AU" term="%22Aslam%2C+Faiza%22">Aslam, Faiza</searchLink><relatesTo>1,2,3</relatesTo><br /><searchLink fieldCode="AU" term="%22Ji%2C+Weizhen%22">Ji, Weizhen</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Jeffries%2C+Lauren%22">Jeffries, Lauren</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Wadhwa%2C+Anant%22">Wadhwa, Anant</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AU" term="%22Konstantino%2C+Monica%22">Konstantino, Monica</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Noman%2C+Muhammad%22">Noman, Muhammad</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Bamford%2C+Nigel+S%2E%22">Bamford, Nigel S.</searchLink><relatesTo>4,5,6</relatesTo><br /><searchLink fieldCode="AU" term="%22Mis%2C+Emily%22">Mis, Emily</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Lakhani%2C+Saquib+A%2E%22">Lakhani, Saquib A.</searchLink><relatesTo>2,3</relatesTo>, <i>saquib.lakhani@csmc.edu</i><br /><searchLink fieldCode="AU" term="%22Naz%2C+Sadaf%22">Naz, Sadaf</searchLink><relatesTo>1</relatesTo>, <i>naz.sbs@pu.edu.pk</i><br /><searchLink fieldCode="AU" term="%22Rawal%2C+Neetu%22">Rawal, Neetu</searchLink>, <i>nrawal@wiley.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Genetics+Research%22">Genetics Research</searchLink>; 6/25/2026, Vol. 2026, p1-8, 8p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=194917317
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      – Type: doi
        Value: 10.1155/genr/5644954
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      – Code: eng
        Text: English
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      – TitleFull: Compound Heterozygous ATM Variants Cause Adolescent‐Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family.
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            NameFull: Aslam, Faiza
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            – D: 25
              M: 06
              Text: 6/25/2026
              Type: published
              Y: 2026
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