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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 3, 2023. (Total: 217635Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Alexander Disease and GFAP[original query]
Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 Sep .
Di Giovanni M, Poggiani A, Bianchi S, Rosini F, Rufa A, Federico
Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients.
European journal of medical genetics 2015 Sep 58 (9): 466-70.
Ferreira Marie-Céleste, Dorboz Imen, Rodriguez Diana, Boespflug Tanguy Odi
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2016 Jan .
Tonduti Davide, Ardissone Anna, Ceccherini Isabella, Giaccone Giorgio, Farina Laura, Moroni Isabel
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