Varaico: Literature-Extracted Genetic Variants

Gene:TUBE1
Variant:p.L239R
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TUBE1

NM_016262.5:p.L239R

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 820.316

A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.

Ben Cheikh BO et al.

Neurogenetics, 2009

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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."