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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SDHD

Variant:p.L95R

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SDHD

NM_003002.4:p.L95R

hg38:chr11:112088981 T>G

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

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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."