Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.A65Splc
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SDS

NM_006843.3:p.A65Splc

Associated Papers

High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

Brouwers FM et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.

Agrawal S et al.

Human Molecular Genetics, 2005

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.

Cymerman U et al.

Human Mutation, 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."