Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.R14G
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SDS

NM_006843.3:p.R14G

Associated Papers

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Spinelli L et al.

Journal of Medical Genetics, 2015

25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf

Analysis of the functional modules of the tRNA 3' endonuclease (tRNase Z).

Späth B et al.

The Journal of Biological Chemistry, 2005

Demonstration of conformational changes associated with activation of the maltose transport complex.

Mannering DE et al.

The Journal of Biological Chemistry, 2001

Mutations which alter the elbow region of tRNA2Gly reduce T4 gene 60 translational bypassing efficiency.

Herr AJ et al.

The Embo Journal, 1999

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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."