FDA grants full approval to Bayer's Vitrakvi for NTRK fusion-positive solid tumors in adults and children. Clinical trials show a 60% overall response rate and median response duration of 43.3 ...

来自未知机构的研究人员针对KIF1A相关神经障碍(KAND)的遗传异质性展开研究，通过一例57岁女性患者的临床与基因分析，发现位于非运动结构域的新型杂合变异c.1788_1790delinsACG(p.His596_Pro597delinsGlnArg)，该变异通过破坏局部蛋白构象导致迟发性小脑萎缩，家族史提示 ...

New gene editing tool shows promise for treating diseases with multiple mutations Date: April 9, 2025 Source: Mass General Brigham Summary: Investigators have developed STITCHR, a new gene editing ...

By integrating cutting-edge computational modeling, deep mutational scanning and laboratory validation, scientists have engineered an antibody that restores full potency against multiple potential ...

The workshop discussions were focused on five major topics: (1) genetic counselling and mutation analysis; (2) endoscopic surveillance and screening of cancer; (3) risk-reduction surgery of the ...

DeepSomatic is an analysis pipeline that uses a deep neural network to call somatic variants from tumor-normal and tumor-only sequencing data.

While the Crystalized Rod may have the lower value, its relatively high mutation chance passive can make it the better long-term investment. You can skip to this tier from tier 1 if you choose ...

New research analyzing their evolution finds the same mutation across fish species that have evolved on separate timelines — alongside human-made pollutants contaminating the deep sea.

The study found that mutations to VPS35, a key player in this pathway, can prevent chemotherapy-induced cell death. These results could help pinpoint treatment-resistant tumors. Investigators at ...

Fisch added a brand-new Mutation called Female with the latest update. This is strictly a novelty feature exclusive to new players. Introduced with update v1.23.0, this Mutation is among the ...

Among the forms of monogenic macular degeneration, the most common is Stargardt disease. This disease is caused by mutations in the ATP-binding cassette transporter alpha 4 subunit (ABCA4) gene, ...