Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

A new interesting article has been published in Hum Mutat. 2019 Dec 4. doi: 10.1002/humu.23963. and titled: Comparison of the functional and structural characteristics of rare TSC2 variants with clinical…

Continue ReadingComparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients.

A new interesting article has been published in J Hum Genet. 2019 Dec; 64(12):1187-1194. doi: 10.1038/s10038-019-0674-5. Epub 2019 Oct 7. and titled: Importance of gastric cancer for the diagnosis and…

Continue ReadingImportance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients.