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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EYA1

Variant:p.S14delFs

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EYA1

NM_000503.6:p.S14delFs

hg38:chr8:71354864 ACT>A

Associated Papers

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

Massouridès E et al.

Skeletal Muscle, 2015

26568816 (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."