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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUBA1A

Variant:p.E450fs

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TUBA1A

NM_006009.4:p.E450fs

hg38:chr12:49185018 TTC>N

Associated Papers

Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.

Zhang W et al.

Journal of Clinical Laboratory Analysis, 2022

35837997 (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."