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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCOF1

Variant:p.R590delFs

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TCOF1

NM_000356.4:p.R590delFs

hg38:chr5:150376181 GC>G

Associated Papers

Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.

Shenoy RD et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2022

34714179 (PubMed )

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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."