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Whole exome sequencing identifies a novel compound heterozy..:
Khan, Atta Ullah
;
Khan, Ibrar
;
Khan, Muhammad Ismail
...
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2693-2700 , 2022
Link:
https://doi.org/10.1002/ajmg.a.62856
RT Journal T1 <Title>Whole exome sequencing identifies a novel compound heterozygousGFM1variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62856&Exemplar=1&LAN=DE A1 Khan, Atta Ullah A1 Khan, Ibrar A1 Khan, Muhammad Ismail A1 Latif, Muhammad A1 Siddiqui, Muhammad Imran A1 Khan, Shafi Ullah A1 Htar, Thet Thet A1 Wahid, Ghazala A1 Ullah, Ikram A1 Bibi, Fehmida A1 Khan, Asifullah A1 Naseer, Muhammad Imran A1 Seo, Go Hun A1 Jelani, Musharraf PB Wiley YR 2022 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 9 SP 2693 OP 2700 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62856 DO https://doi.org/10.1002/ajmg.a.62856 SF ELIB - SuUB Bremen
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