Autor: Fan Yang
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A novel TRPC6 variant (c.131C>T, p.(Pro44Leu)) associated with focal segmental glomerulosclerosis: a case report
BackgroundPathogenic variants in the transient receptor potential cation channel subfamily C member 6 (TRPC6) cause autosomal dominant focal segmental glomerulosclerosis (FSGS). We report a patient with early-onset FSGS carrying a novel TRPC6 variant n…