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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DUX4

Variant:p.Q296_P302del7

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DUX4

NM_001306068.3:p.Q296_P302del7

hg38:chr4:190174657 GCCAAGGGGTGCTTGCGCCACC>G

Associated Papers

A framework for the evaluation of patients with congenital facial weakness.

Webb BD et al.

Orphanet Journal of Rare Diseases, 2021

33827624 (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."