Varaico: Literature-Extracted Genetic Variants

Gene:MIEF2
Variant:p.Q92*
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MIEF2

NM_148886.2:p.Q92*

Associated Papers

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Yuan B et al.

Genome Medicine, 2022

36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Bartsakoulia M et al.

Human Molecular Genetics, 2018

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW et al.

Jama, 2014

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