Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.C57F
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SDS

NM_006843.3:p.C57F

Associated Papers

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).

Musumeci O et al.

Neuromuscular Disorders : Nmd, 2012

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Friedman JS et al.

American Journal of Human Genetics, 2006

Identification and characterization of KAT, a novel gene preferentially expressed in several human cancer cell lines.

Wenzel K et al.

Biological Chemistry, 2003

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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."