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In the published article, there was an error in affiliation number 2. Instead of “Department of Dermatology, The Affiliated Hospital of Shanxi University of ...

Results We identified a novel, homozygous frameshift mutation, c.273_274delAG (p. Gly92Leufs*8) in exon 4 of SI in the proband, that is predicted to result in complete absence of functional protein ...

Heterozygous MPST-deficient (MPST +/-) mice on a C57BL/6 background were generated through frameshift mutation by TAL-effector nuclease system by Beijing ViewSolid Biotechnology (Beijing, China).

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Loss of function mutations (frameshift, nonsense, splice site) are the most common, but there are some pathogenic missense mutations, including the recurrent R199C mutation. Mutations in this class of ...

Get Instant Summarized Text (Gist) Introduction of the Icelandic mutation into an Alzheimer's disease mouse model lacking the Swedish mutation demonstrated reduced beta amyloid plaque formation ...

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 ...

It was not until she turned one in 2021 that she was officially diagnosed with PIK3CA-Related Overgrowth Spectrum (Pros), which is a group of conditions caused by a gene mutation that affects one ...

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 ...