Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.T190M
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SPECC1L

NM_015330.6:p.T190M

Associated Papers

A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient.

Bai S et al.

Orthodontics & Craniofacial Research, 2021

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

Saadi I et al.

American Journal of Human Genetics, 2011

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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."