Varaico: Literature-Extracted Genetic Variants

Gene:TMEM129
Variant:p.Y112F
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TMEM129

NM_001127266.2:p.Y112F

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

Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.

Le Gallo M et al.

Nature Genetics, 2012

23104009 (PubMed )
Supplement: NIHMS412622-supplement-7.xls › Supplementary_Table_16
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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."