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1 Ergebnisse
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A Homozygous AKNA Frameshift Variant Is Associated with Mic..:
Syeda Seema Waseem
;
Abubakar Moawia
;
Birgit Budde
...
https://www.mdpi.com/2073-4425/12/10/1494. , 2021
Link:
https://doi.org/10.3390/genes12101494
RT Journal T1
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:180af34144004e85ac38ff0161006275&Exemplar=1&LAN=DE A1 Syeda Seema Waseem A1 Abubakar Moawia A1 Birgit Budde A1 Muhammad Tariq A1 Ayaz Khan A1 Zafar Ali A1 Sheraz Khan A1 Maria Iqbal A1 Naveed Altaf Malik A1 Saif ul Haque A1 Janine Altmüller A1 Holger Thiele A1 Muhammad Sajid Hussain A1 Sebahattin Cirak A1 Shahid Mahmood Baig A1 Peter Nürnberg PB MDPI AG YR 2021 K1 autosomal recessive primary microcephaly (MCPH) K1 AKNA K1 whole-exome sequencing (WES) K1 linkage/haplotype analysis K1 cerebral cortex K1 Genetics K1 QH426-470 JF https://www.mdpi.com/2073-4425/12/10/1494 LK http://dx.doi.org/https://doi.org/10.3390/genes12101494 DO https://doi.org/10.3390/genes12101494 SF ELIB - SuUB Bremen
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