Varaico: Literature-Extracted Genetic Variants

Gene:DHX38
Variant:p.R190H
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DHX38

NM_014003.4:p.R190H

Associated Papers

Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.

Richard AJ et al.

Ophthalmic Surgery, Lasers & Imaging Retina, 2021

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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