However, the effects are less serious than those of nonsense mutations and frame shift mutations. Taken together, these data describe a potentially novel mechanism for IKKβ activation. Tyrosine 395 ...

All frame shift mutations, nonsense mutations, and mutations of the first two nucleotides of canonical intron splice acceptor or donor sites have been classified as pathogenic. A missense or intronic ...

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But in about 5% to 10% of cases, the cause is hereditary. This means that the cancer is due to a gene change, called a “mutation,” that’s passed down from a parent. Researchers have ...

It can cause symptoms such as breathing problems and hoarseness. Therapy that targets the mutation, such as EGFR inhibitors, may help. “EGFR” stands for “epidermal growth factor receptor.” ...

Like Tiny Tina's Wonderlands Shift codes, Borderlands 3's Shift rewards revolve around different types of key, which are used at a chest in Sanctuary to unlock shiny new guns. It's quite a bit ...

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 ...

Mutations in KDM5C cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most common causes of X-linked ID. KDM5C encodes a histone demethylase for ...

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 ...