Varaico: Literature-Extracted Genetic Variants

Gene:SARDH
Variant:p.T52T
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SARDH

NM_001134707.2:p.T52T

Associated Papers

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.

Shahni R et al.

American Journal of Medical Genetics. Part A, 2013

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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."