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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUBA8

Variant:p.E284K

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TUBA8

NM_018943.3:p.E284K

hg38:chr22:18126828 G>A

Associated Papers

Missense variants in TUBA4A cause myo-tubulinopathies.

Johari M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40666348 (PubMed )

Supplement: NIHPP2025.06.26.25330266V1-supplement-1.pdf

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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."