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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDSS2

Variant:p.A384D

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PDSS2

NM_020381.4:p.A384D

hg38:chr6:107154668 G>T

Associated Papers

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

Iványi B et al.

Pediatric Nephrology (berlin, Germany), 2018

29032433 (PubMed )

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