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Biallelic loss of function variant in the unfolded protein ..:
Al‐Fadhli, Fatima M.
;
Afqi, Manal
;
Sairafi, Mona Hamza
...
Clinical Genetics. 99 (2021) 5 - p. 694-703 , 2021
Link:
https://doi.org/10.1111/cge.13930
RT Journal T1
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.13930&Exemplar=1&LAN=DE A1 Al‐Fadhli, Fatima M. A1 Afqi, Manal A1 Sairafi, Mona Hamza A1 Almuntashri, Makki A1 Alharby, Essa A1 Alharbi, Ghadeer A1 Abdud Samad, Firoz A1 Hashmi, Jamil Amjad A1 Zaytuni, Dimah A1 Bahashwan, Ahmed A. A1 Choi, Jin Huk A1 Peake, Roy W. A. A1 Beutler, Bruce A1 Almontashiri, Naif A. M. PB Wiley YR 2021 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 99 IS 5 SP 694 OP 703 LK http://dx.doi.org/https://doi.org/10.1111/cge.13930 DO https://doi.org/10.1111/cge.13930 SF ELIB - SuUB Bremen
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