Varaico: Literature-Extracted Genetic Variants

Gene:SUB1
Variant:p.R47delFs
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SUB1

NM_006713.4:p.R47delFs

Associated Papers

Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

Tender JAF et al.

Translational Science of Rare Diseases, 2018

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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."