Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.R155_G156Splc
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COLQ

NM_005677.4:p.R155_G156Splc

Associated Papers

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

Zeniou M et al.

American Journal of Human Genetics, 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."