NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke
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Author / Creator
Rodriguez-Flores, Juan Lorenzo , Khalid, Shareef , Parikshak, Neelroop , Rasheed, Asif , Ye, Bin , Kapoor, Manav , Backman, Joshua , Sepehrband, Farshid , Gioia, Silvio Alessandro Di , Gelfman, Sahar , De, Tanima , Banerjee, Nilanjana , Sharma, Deepika , Martinez, Hector , Castaneda, Sofia , D’Ambrosio, David , Zhang, Xingmin A. , Xun, Pengcheng , Tsai, Ellen , Tsai, I-Chun , Khan, Maleeha Zaman , Jahanzaib, Muhammad , Mian, Muhammad Rehan , Liaqat, Muhammad Bilal , Mahmood, Khalid , Salam, Tanvir Us , Hussain, Muhammad , Iqbal, Javed , Aslam, Faizan , Cantor, Michael N. , Tzoneva, Gannie , Overton, John , Marchini, Jonathan , Reid, Jeffrey G. , Baras, Aris , Verweij, Niek , Lotta, Luca A. , Coppola, Giovanni , Karalis, Katia , Economides, Aris , Fazio, Sergio , Liedtke, Wolfgang , Danesh, John , Kamal, Ayeesha , Frossard, Philippe , Coleman, Thomas , Shuldiner, Alan R. , Saleheen, Danish , RGC Management & Leadership Team , Genome Informatics & Data Engineering , Senior Partnerships & Business Operations , Regeneron Genetics Center , Therapeutic Area Genetics , Analytical Genetics and Data Science , Sequencing & Lab Operations , Business Operations & Administrative Coordinators , Clinical Informatics and Research Program Management & Strategic Initiatives
Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
The genetic factors of stroke in South Asians are largely unexplored. Exome-wide sequencing and association analysis (ExWAS) in 75 K Pakistanis identified NM_000435.3(NOTCH3):c.3691 C > T, encoding the missense amino acid substitution p.Arg1231Cys, enriched in South Asians (alternate allele frequency = 0.58% compared to 0.019% in Western Europeans)...
Alternative Titles
Full title
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke
Authors, Artists and Contributors
Author / Creator
Khalid, Shareef
Parikshak, Neelroop
Rasheed, Asif
Ye, Bin
Kapoor, Manav
Backman, Joshua
Sepehrband, Farshid
Gioia, Silvio Alessandro Di
Gelfman, Sahar
De, Tanima
Banerjee, Nilanjana
Sharma, Deepika
Martinez, Hector
Castaneda, Sofia
D’Ambrosio, David
Zhang, Xingmin A.
Xun, Pengcheng
Tsai, Ellen
Tsai, I-Chun
Khan, Maleeha Zaman
Jahanzaib, Muhammad
Mian, Muhammad Rehan
Liaqat, Muhammad Bilal
Mahmood, Khalid
Salam, Tanvir Us
Hussain, Muhammad
Iqbal, Javed
Aslam, Faizan
Cantor, Michael N.
Tzoneva, Gannie
Overton, John
Marchini, Jonathan
Reid, Jeffrey G.
Baras, Aris
Verweij, Niek
Lotta, Luca A.
Coppola, Giovanni
Karalis, Katia
Economides, Aris
Fazio, Sergio
Liedtke, Wolfgang
Danesh, John
Kamal, Ayeesha
Frossard, Philippe
Coleman, Thomas
Shuldiner, Alan R.
Saleheen, Danish
RGC Management & Leadership Team
Genome Informatics & Data Engineering
Senior Partnerships & Business Operations
Regeneron Genetics Center
Therapeutic Area Genetics
Analytical Genetics and Data Science
Sequencing & Lab Operations
Business Operations & Administrative Coordinators
Clinical Informatics
Research Program Management & Strategic Initiatives
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6deb4ea097ec40d293f51e257ce35689
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6deb4ea097ec40d293f51e257ce35689
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-024-51819-3
