Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.D249E
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TUBB2B

NM_178012.5:p.D249E

Associated Papers

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Tantry MSA et al.

Molecular Neurobiology, 2023

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29671837 (PubMed )
Supplement: NIHMS934304-supplement-Supplementary_table_2.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."