Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.H162R
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PDSS2

NM_020381.4:p.H162R

Associated Papers

Clinical syndromes associated with Coenzyme Q10 deficiency.

Alcázar-Fabra M et al.

Essays in Biochemistry, 2018

Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.

Iványi B et al.

Pediatric Nephrology (berlin, Germany), 2018

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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."