Varaico: Literature-Extracted Genetic Variants

Gene:CCDC160
Variant:p.E167fs
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CCDC160

NM_001353453.3:p.E167fs

Associated Papers

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Moresco G et al.

Genes, 2024

De novo mutations in PLXND1 and REV3L cause Möbius syndrome.

Tomas-Roca L et al.

Nature Communications, 2015

26068067 (PubMed )
Supplement: ncomms8199-s1.pdf
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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."