Varaico: Literature-Extracted Genetic Variants

Gene:IDH3B
Variant:p.A348V
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IDH3B

NM_006899.5:p.A348V

Associated Papers

Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.

Liu S et al.

International Journal of Molecular Medicine, 2016

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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."