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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en: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: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares