Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.L178L
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PDSS2

NM_020381.4:p.L178L

Associated Papers

Clinical features and gene variation analysis of COQ8B nephropathy: Report of seven cases.

Liang R et al.

Frontiers in Pediatrics, 2022

Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review.

Feng C et al.

Medicine, 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."