Varaico: Literature-Extracted Genetic Variants

Gene:EFTUD2
Variant:p.L607P
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EFTUD2

NM_004247.4:p.L607P

Associated Papers

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

Caswell RC et al.

Genome Medicine, 2022

35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1

Genetic analysis reveals a role for the C terminus of the Saccharomyces cerevisiae GTPase Snu114 during spliceosome activation.

Brenner TJ et al.

Genetics, 2005

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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."