Varaico: Literature-Extracted Genetic Variants

Gene:MAGEC1
Variant:p.F252S
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MAGEC1

NM_005462.5:p.F252S

Associated Papers

Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.

Gao L et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2016

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.

Lo SM et al.

Blood, 2012

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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."