Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.A292T
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CS

NM_004077.3:p.A292T

Associated Papers

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.

Apatean D et al.

Molecular Genetics and Metabolism Reports, 2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.

Apatean D et al.

Molecular Genetics and Metabolism Reports, 2019

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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."