Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.L284_S285delFs
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SLC16A1

NM_003051.4:p.L284_S285delFs

Associated Papers

SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency.

Zeng HS et al.

Molecular Medicine Reports, 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."