Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.A284V
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TRPC6

NM_004621.6:p.A284V

Associated Papers

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

Lipska BS et al.

Kidney International, 2013

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

Santín S et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2011

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.

Machuca E et al.

Kidney International, 2009

NPHS2 variation in focal and segmental glomerulosclerosis.

Tonna SJ et al.

Bmc Nephrology, 2008

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.

Karle SM et al.

Journal of the American Society of Nephrology : Jasn, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."