Varaico: Literature-Extracted Genetic Variants

Gene:FRMD6
Variant:p.G284_K285delFs
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FRMD6

NM_001267046.2:p.G284_K285delFs

Associated Papers

Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele.

Zhang ZH et al.

Oncotarget, 2017

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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."