Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.L183L
Back to variants list

TTC19

NM_017775.4:p.L183L

Associated Papers

Nuclear gene mutations as the cause of mitochondrial complex III deficiency.

Fernández-Vizarra E et al.

Frontiers in Genetics, 2015

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.

Miyake N et al.

Human Mutation, 2013

[Complex III deficiency due to mutations in the cytochrome b gene].

Ishii A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."