Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.L10L
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C2

NM_000063.6:p.L10L

Associated Papers

A natural non-Watson-Crick base pair in human mitochondrial tRNAThr causes structural and functional susceptibility to local mutations.

Wang Y et al.

Nucleic Acids Research, 2018

Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.

Blahakova I et al.

Journal of Inherited Metabolic Disease, 2007

Alanine-scanning mutagenesis of the beta-sheet region of phage T4 lysozyme suggests that tertiary context has a dominant effect on beta-sheet formation.

He MM et al.

Protein Science : a Publication of the Protein Society, 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."