Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S1231_S1235del5
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CFTR

NM_000492.4:p.S1231_S1235del5

Associated Papers

Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.

Vecchio-Pagán B et al.

Human Genome Variation, 2016

27917292 (PubMed )
Supplement: hgv201638-s6.xls › Sup_2
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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."