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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATXN7L3

Variant:p.I71T

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ATXN7L3

NM_001382309.1:p.I71T

hg38:chr17:44197372 A>G

Associated Papers

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

Harel T et al.

Brain : a Journal of Neurology, 2024

38753057 (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."