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Beyond the exome: utility of long-read whole genome sequenc..:
Lama AlAbdi
;
Hanan E. Shamseldin
;
Ebtissal Khouj
...
https://doi.org/10.1186/s13073-023-01270-8. , 2023
Link:
https://doi.org/10.1186/s13073-023-01270-8
RT Journal T1
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:fd9de43c2bca4f7999135a735e07781d&Exemplar=1&LAN=DE A1 Lama AlAbdi A1 Hanan E. Shamseldin A1 Ebtissal Khouj A1 Rana Helaby A1 Bayan Aljamal A1 Mashael Alqahtani A1 Aisha Almulhim A1 Halima Hamid A1 Mais O. Hashem A1 Firdous Abdulwahab A1 Omar Abouyousef A1 Amal Jaafar A1 Tarfa Alshidi A1 Mohammed Al-Owain A1 Amal Alhashem A1 Saeed Al Tala A1 Arif O. Khan A1 Elham Mardawi A1 Hisham Alkuraya A1 Eissa Faqeih A1 Manal Afqi A1 Salwa Alkhalifi A1 Zuhair Rahbeeni A1 Samya T. Hagos A1 Wijdan Al-Ahmadi A1 Seba Nadeef A1 Sateesh Maddirevula A1 Khalid S. A. Khabar A1 Alexander Putra A1 Angel Angelov A1 Changsook Park A1 Ana M. Reyes-Ramos A1 Husen Umer A1 Ikram Ullah A1 Patrick Driguez A1 Yoshinori Fukasawa A1 Ming Sin Cheung A1 Imed Eddine Gallouzi A1 Fowzan S. Alkuraya PB BMC YR 2023 K1 Long-read sequencing K1 Autozygome K1 STX3 K1 ABHD12 K1 C1orf109 K1 FLVCR1 K1 Medicine K1 R K1 Genetics K1 QH426-470 JF https://doi.org/10.1186/s13073-023-01270-8 LK http://dx.doi.org/https://doi.org/10.1186/s13073-023-01270-8 DO https://doi.org/10.1186/s13073-023-01270-8 SF ELIB - SuUB Bremen
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