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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUBA8

Variant:p.V75delFs

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TUBA8

NM_018943.3:p.V75delFs

hg38:chr22:18121697 AG>A

Associated Papers

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.

Mah-Som AY et al.

Neurology. Genetics, 2021

33977139 (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."