Associated Papers
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Yaoita H et al.
Journal of Human Genetics, 2024
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.
Inoue T et al.
Journal of Human Genetics, 2024
38409496 (PubMed )
Supplement: 10038_2024_1225_MOESM7_ESM.xlsx › Sheet3
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Larsen ISB et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
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