Expanding the phenotype of ATP6AP1 deficiency
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DOI: 10.1101/mcs.a006195
Abstract: 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… read more here.
Keywords: atp6ap1; expanding phenotype; atp6ap1 cdg; atp6ap1 deficiency ... See more keywords