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Identification of a novel de novo pathogenic variant in GFA..:
Katayoun Heshmatzad
;
Niloofar Naderi
;
Tannaz Masoumi
..
https://doi.org/10.1186/s40001-022-00799-5. , 2022
Link:
https://doi.org/10.1186/s40001-022-00799-5
RT Journal T1
Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:d2c6d88c908643f38a0f019c530ddd3a&Exemplar=1&LAN=DE A1 Katayoun Heshmatzad A1 Niloofar Naderi A1 Tannaz Masoumi A1 Hamidreza Pouraliakbar A1 Samira Kalayinia PB BMC YR 2022 K1 Infantile Alexander disease K1 GFAP K1 Leukodystrophy K1 Whole-exome sequencing K1 Genetics K1 In silico analysis K1 Medicine K1 R JF https://doi.org/10.1186/s40001-022-00799-5 LK http://dx.doi.org/https://doi.org/10.1186/s40001-022-00799-5 DO https://doi.org/10.1186/s40001-022-00799-5 SF ELIB - SuUB Bremen
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