Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.G148V
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SDHD

NM_003002.4:p.G148V

Associated Papers

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

Lin S et al.

European Journal of Human Genetics : Ejhg, 2021

34012134 (PubMed )
Supplement: 41431_2021_887_MOESM1_ESM.docx

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

Neumann HP et al.

Jama, 2004

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