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Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients

Background: The semaphorin 3D (SEMA3D) gene has been implicated in the pathogenesis of Hirschsprung disease (HSCR), a complex genetic disorder characterized by the loss of ganglion cells in varying lengths of gastrointestinal tract. We wished to investigate the role of SEMA3D variants, both rare and...

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Publicat a:Front Pediatr
Autors principals: Gunadi, Kalim, Alvin Santoso, Budi, Nova Yuli Prasetyo, Hafiq, Hamzah Muhammad, Maharani, Annisa, Febrianti, Maharani, Ryantono, Fiko, Yulianda, Dicky, Iskandar, Kristy, Veltman, Joris A.
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7078240/
https://ncbi.nlm.nih.gov/pubmed/32219083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00060
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