Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R1158R
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CFTR

NM_000492.4:p.R1158R

Associated Papers

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Bartoloni L et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."