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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUB

Variant:p.Y427_E428Splc

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TUB

NM_003320.5:p.Y427_E428Splc

hg38:chr11:8100500 C>T

Associated Papers

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

Smigiel R et al.

American Journal of Medical Genetics. Part A, 2016

27605359 (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."