Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants

BACKGROUND: Glycophosphatidylinositol‐anchored proteins (GPI‐APs) mediate several physiological processes such as embryogenesis and neurogenesis. Germline variants in genes involved in their synthesis can disrupt normal development and result in a variety of clinical phenotypes. With the advent of n...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Baratang, Nissan Vida, Jimenez Cruz, Daniel Alexander, Ajeawung, Norbert Fonya, Nguyen, Thi Tuyet Mai, Pacheco‐Cuéllar, Guillermo, Campeau, Philippe M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625143/
https://ncbi.nlm.nih.gov/pubmed/31127708
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.743
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