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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SDHA

Variant:p.R451_L452delFs

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SDHA

NM_004168.4:p.R451_L452delFs

hg38:chr5:236517 CCGCCT>C

Associated Papers

Barth syndrome associated with triple mutation.

Tsujii N et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2018

29508483 (PubMed )

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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."