Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.S606_G607Splc
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COL11A2

NM_080680.3:p.S606_G607Splc

Associated Papers

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

Pennings RJ et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2004

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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."