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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP11A

Variant:p.Q407_V408Splc

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ATP11A

NM_015205.3:p.Q407_V408Splc

hg38:chr13:112826896 G>C

Associated Papers

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.

Rosso LE et al.

Biomedicines, 2025

41007806 (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."