Varaico: Literature-Extracted Genetic Variants

Gene:CAPG
Variant:p.S8Splc
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CAPG

NM_001747.4:p.S8Splc

Associated Papers

Comorbidity of inflammatory bowel disease with atypical hemolytic uremic syndrome in pediatric patients.

Shin HS et al.

Clinical Nephrology. Case Studies, 2019

Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri.

Brocklebank V et al.

Clinical Kidney Journal, 2014

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations.

Alberti M et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2013

Severe atypical HUS caused by CFH S1191L--case presentation and review of treatment options.

De S et al.

Pediatric Nephrology (berlin, Germany), 2010

Atypical hemolytic uremic syndrome responsive to steroids and intravenous immune globulin.

Watt T et al.

Pediatric Blood & Cancer, 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."