Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q996H
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CFTR

NM_000492.4:p.Q996H

Associated Papers

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.

Pompei F et al.

European Journal of Human Genetics : Ejhg, 2006

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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."