Varaico: Literature-Extracted Genetic Variants

Gene:TMEM126A
Variant:p.R29Splc
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TMEM126A

NM_032273.4:p.R29Splc

Associated Papers

NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.

D'Angelo L et al.

Cell Reports, 2021

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.

Kloth K 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."