[HTML][HTML] Cancer-Related Mutations in the Sam Domains of EphA2 Receptor and Ship2 Lipid Phosphatase: A Computational Study
M Vincenzi, FA Mercurio, I Autiero, M Leone - Molecules, 2024 - mdpi.com
… cancer-related missense mutations positioned inside or … evaluated by bioinformatics tools
based on analyses of primary … We searched for cancer-related missense mutations, leading …
based on analyses of primary … We searched for cancer-related missense mutations, leading …
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia
X Meng, H Zhang, L Dong, Q Min, M Yu, Y Li, L Liu… - Blood Advances, 2024 - Elsevier
… for 55.6% cases 9. The ELANE (or ELA2) gene encodes the 72 neutrophil elastase protein.
A … Among the 56 255 cases studied, 40 cases received G-CSF treatment. Partly due to the …
A … Among the 56 255 cases studied, 40 cases received G-CSF treatment. Partly due to the …
[HTML][HTML] Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing
… Bioinformatics analysis was performed in the bcbio-nextgen … We detected two missense
variants of HARS2 in an early … Our study used multiplex PCR plus NGS to detect mutations …
variants of HARS2 in an early … Our study used multiplex PCR plus NGS to detect mutations …