Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.G555E
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SDHA

NM_004168.4:p.G555E

Associated Papers

Assembly of mitochondrial succinate dehydrogenase in human health and disease.

Cao K et al.

Free Radical Biology & Medicine, 2023

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants

Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?

Moreira JD et al.

Genes, 2021

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Sturrock BRH et al.

Molecular Genetics & Genomic Medicine, 2021

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Casey RT et al.

Molecular Genetics & Genomic Medicine, 2017

28546994 (PubMed )
Supplement: MGG3-5-237-s001.docx

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Li MH et al.

Human Genomics, 2015

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

Levitas A et al.

European Journal of Human Genetics : Ejhg, 2010

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

Pagnamenta AT et al.

Molecular Genetics and Metabolism, 2006

The genetic basis of isolated mitochondrial complex II deficiency.

Fullerton M et al.

Molecular Genetics and Metabolism, 0

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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."