Varaico: Literature-Extracted Genetic Variants

Gene:TMX2
Variant:p.R231W
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TMX2

NM_015959.4:p.R231W

Associated Papers

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.

Ghosh SG et al.

Journal of Medical Genetics, 2020

Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.

Li Z et al.

Science Advances, 2020

32133402 (PubMed )
Supplement: aay4211_Table_S2.xlsx › SomaticMutations

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

Vandervore LV et al.

American Journal of Human Genetics, 2019

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