Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.F731delFs
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SMARCAL1

NM_014140.4:p.F731delFs

Associated Papers

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Mallett AJ et al.

Kidney International, 2017

Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney disease.

Chan S et al.

Nephrology (carlton, Vic.), 2017

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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."