Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.R197Q
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ARSB

NM_000046.5:p.R197Q

Associated Papers

A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.

Wu X et al.

Bmc Medical Genetics, 2019

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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."