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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ESCO2

Variant:p.F307_D311del5

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ESCO2

NM_001017420.3:p.F307_D311del5

hg38:chr8:27780229 CTTTTTCTTCAGAGGA>C

Associated Papers

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.

Colombo EA et al.

Frontiers in Pediatrics, 2019

31192177 (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."