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Novel variants in MPV17, PRX, GJB1, and SACS Cause Charcot–..:
Zaman, Qaiser
;
Khan, Muhammad Abbas
;
Sahar, Kalsoom
...
http://dx.doi.org/10.18725/OPARU-50867. , 2023
Link:
https://doi.org/10.18725/OPARU-50867
RT Journal T1
Novel variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay type diseases
UL https://suche.suub.uni-bremen.de/peid=base-ftunivulm:oai:oparu.uni-ulm.de:123456789_50943&Exemplar=1&LAN=DE A1 Zaman, Qaiser A1 Khan, Muhammad Abbas A1 Sahar, Kalsoom A1 Rehman, Gauhar A1 Khan, Hamza A1 Rehman, Mehwish A1 Najumuddin A1 Ahmad, Ilyas A1 Tariq, Muhmmad A1 Muthaffar, Osama Yousef A1 Abdulkareem, Angham Abdulrhman A1 Bibi, Fehmida A1 Naseer, Muhammad Imran A1 Faisal, Muhammad Shah A1 Wasif, Naveed A1 Jelani, Musharraf PB Universität Ulm YR 2023 K1 MPV17 K1 PRX K1 GJB1 K1 SACS K1 CMT K1 ARSACS K1 WES K1 DDC 610 / Medicine & health K1 Nervous system diseases K1 Genetics K1 Neuromuscular diseases K1 Ataxia K1 Genetic diseases K1 Inborn K1 Exome sequencing K1 Neuromuskuläre Krankheit K1 Nervenkrankheit K1 Charcot-Marie-Syndrom K1 Ataxie K1 Genetik JF http://dx.doi.org/10.18725/OPARU-50867 LK http://dx.doi.org/https://doi.org/10.18725/OPARU-50867 DO https://doi.org/10.18725/OPARU-50867 SF ELIB - SuUB Bremen
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