One of the primers of each pair contained a GC clamp. Another new mutation, a frameshift at co-don −19 (Meaux, 112 Δ1) was also discovered during this analysis (fig. 1). The patient ...

You can create a release to package software, along with release notes and links to binary files, for other people to use. Learn more about releases in our docs.

One-third of the SNV-positive cohort 33% (4/12) had one or more plexiform neurofibroma. Patient 6, identified to have a frameshift variant (c.5267_5268del), had a higher burden of plexiform ...

The processes underlying CCHS, mutations in the PHOX2B gene, target autonomic neuronal development, with frame shift extent contributing to symptom severity. Many autonomic characteristics, such as ...

The mutation increases levels of glycine decarboxylase, or GLDC, an enzyme responsible for regulating glycine in the brain. Glycine activates receptors for the neurotransmitter glutamate, called ...

Kennedy Jr. addressed the worsening avian flu crisis, saying vaccinating birds turns them into “mutation factories." Instead, he recommends letting the birds who survive the virus continue to breed.

A safe biological birth control strategy for men has eluded scientists for many years. Now, an understudied enzyme brought them a step closer. Rohini Subrahmanyam is a biologist-turned-science-writer ...

Mar. 14, 2025 — Researchers have discovered that cancer cells suppress 'poison exons' -- genetic elements that act as an off switch for protein production -- in a key gene called TRA2 ...

No other causative genes were identified. This is the first report to demonstrate metabolic abnormalities and hypothalamic atrophy in a patient with a TBK1 mutation. Given that these abnormalities are ...

Many missense and protein truncating mutations have now been identified in the causative retinoschisis gene (RS1) which encodes a 224 amino acid secreting retinal protein, retinoschisin. Retinoschisin ...

We first sequenced the cDNA of SCA28 patients carrying the C-terminal deletion, and we defined the pathogenic variant as a frameshift (p.L556fs) occurring in the end of exon 13, resulting in a ...