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A novel HNF4A pathogenic variant in a case of congenital hyperinsulinism with glycogenosis - like phenotype
Title A novel HNF4A pathogenic variant in a case of congenital hyperinsulinism with glycogenosis - like phenotype Author Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Co-authors Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Brennerová Katarína Daniš Daniel 1989 SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Rosoľanková Monika Salingova Anna Bzduch Vladimir Klimeš Iwar SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Staník Juraj SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Source document Genomics of rare disease : abstract book. P. 15. - Hinxton, 2017 ; Genomics of rare disease Language eng - English Country GB - Great Britian Document kind rozpis článkov z periodík (rzb) Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Year 2017 
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rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2017
Number of the records: 1