Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.P957fs
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OFD1

NM_003611.3:p.P957fs

Associated Papers

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms.

Bukowy-Bieryllo Z et al.

Journal of Medical Genetics, 2019

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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."