Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y122insFs
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CFTR

NM_000492.4:p.Y122insFs

Associated Papers

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

Ganesh S et al.

Human Molecular Genetics, 2002

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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."