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Expanding the phenotype of ATP6AP1 deficiency

Vacuolar ATPases (V-ATPases) are large multisubunit proton pumps conserved among all eukaryotic cells that are involved in diverse functions including acidification of membrane-bound intracellular compartments. The ATP6AP1 gene encodes an accessory subunit of the vacuolar (V)-ATPase protein pump. Pa...

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Detalles Bibliográficos
Autores principales:	Barua, Subit, Berger, Sara, Pereira, Elaine M., Jobanputra, Vaidehi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2022
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235842/ https://www.ncbi.nlm.nih.gov/pubmed/35732497 http://dx.doi.org/10.1101/mcs.a006195

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