Varaico: Literature-Extracted Genetic Variants

Gene:PIGA
Variant:p.S39F
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PIGA

NM_002641.4:p.S39F

Associated Papers

TERC mutations in children with refractory cytopenia.

Ortmann CA et al.

Haematologica, 2006

Functional characterization of telomerase RNA variants found in patients with hematologic disorders.

Ly H et al.

Blood, 2005

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.

Marrone A et al.

Expert Reviews in Molecular Medicine, 2004

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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."