Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L1091L
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CFTR

NM_000492.4:p.L1091L

Associated Papers

Effect of mRNA/tRNA mutations on translation speed: Implications for human diseases.

Davyt M et al.

The Journal of Biological Chemistry, 2023

Translation matters: protein synthesis defects in inherited disease.

Scheper GC et al.

Nature Reviews. Genetics, 2007

Detection of mitochondrial DNA mutations using temporal temperature gradient gel electrophoresis.

Wong LJ et al.

Electrophoresis, 2004

Direct detection of multiple point mutations in mitochondrial DNA.

Wong LJ et al.

Clinical Chemistry, 1997

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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."