Varaico: Literature-Extracted Genetic Variants

Gene:TMX3
Variant:p.V309I
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TMX3

NM_019022.5:p.V309I

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 › 266.133

A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

Chao R et al.

Plos One, 2010

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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."