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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Detalles Bibliográficos
Autores principales: Baratang, Nissan Vida, Jimenez Cruz, Daniel Alexander, Ajeawung, Norbert Fonya, Nguyen, Thi Tuyet Mai, Pacheco‐Cuéllar, Guillermo, Campeau, Philippe M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625143/
https://www.ncbi.nlm.nih.gov/pubmed/31127708
http://dx.doi.org/10.1002/mgg3.743

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625143/
https://www.ncbi.nlm.nih.gov/pubmed/31127708
http://dx.doi.org/10.1002/mgg3.743

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