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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TWIST1

Variant:p.S102_Y103delFs

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TWIST1

NM_000474.4:p.S102_Y103delFs

hg38:chr7:19117014 TAA>T

Associated Papers

NGS targeted screening of 100 Scandinavian patients with coronal synostosis.

Topa A et al.

American Journal of Medical Genetics. Part A, 2020

31837199 (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."