Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.I519V
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HSPD1

NM_002156.5:p.I519V

Associated Papers

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Mavraki E et al.

European Journal of Human Genetics : Ejhg, 2023

Genetic basis of mitochondrial diseases.

Gusic M et al.

Febs Letters, 2021

Mutant MRPS5 affects mitoribosomal accuracy and confers stress-related behavioral alterations.

Akbergenov R et al.

Embo Reports, 2018

30237157 (PubMed )
Supplement: EMBR-19-e46193-s001.pdf

Mitochondrial diseases caused by mtDNA mutations: a mini-review.

Ryzhkova AI et al.

Therapeutics and Clinical Risk Management, 2018

Clinical presentations of mitochondrial cardiomyopathies.

Lev D et al.

Pediatric Cardiology, 0

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