NPC mutations cause SRNS
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DOI: 10.1038/s41581-018-0064-9
Abstract: https://doi.org/10.1172/JCI98688 (2018) it was surprising that germline mutations in genes that are expressed in every cell of the human body give rise to a cell-specific phenotype Mutations in four genes that encode components of the… read more here.
Keywords: cause srns; nup107 nup85; srns npc; npc mutations ... See more keywords