Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.C229Y
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TRPC6

NM_004621.6:p.C229Y

Associated Papers

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.

Sen ES et al.

Journal of Medical Genetics, 2017

28780565 (PubMed )
Supplement: jmedgenet-2017-104811supp002.docx

Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

Megremis S et al.

Genetic Testing and Molecular Biomarkers, 2009

NPHS2 variation in focal and segmental glomerulosclerosis.

Tonna SJ et al.

Bmc Nephrology, 2008

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.

He N et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2007

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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."