Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.A297V
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TRPC6

NM_004621.6:p.A297V

Associated Papers

Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.

Soliman NA et al.

Human Genetics, 2025

40402239 (PubMed )
Supplement: 439_2025_2752_MOESM1_ESM.docx

Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).

Lu L et al.

Clinical Genetics, 2022

35064937 (PubMed )
Supplement: supplement_1.docx

Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults.

Lepori N et al.

Clinical Kidney Journal, 2018

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

Machuca E et al.

Kidney International, 2009

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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."