Varaico: Literature-Extracted Genetic Variants

Gene:SPN
Variant:p.L40L
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SPN

NM_003123.6:p.L40L

Associated Papers

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Oud MM et al.

Cilia, 2016

27069622 (PubMed )
Supplement: 13630_2016_29_MOESM2_ESM.xls › Additional_file_6_-_description
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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."