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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATAT1

Variant:p.S54delFs

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ATAT1

NM_001413067.1:p.S54delFs

hg38:chr6:30627513 CT>C

Associated Papers

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.

Schäfer E et al.

Human Mutation, 2005

15776423 (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."