Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.E237Q
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CD2AP

NM_012120.3:p.E237Q

Associated Papers

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.

Santín S et al.

Kidney International, 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

Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.

Dusel JA et al.

Kidney International, 2005

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

Weber S et al.

Kidney International, 2004

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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."