Article

Human nonsense mutations in primary hyperammonemia – Analysis of publicized patient mutations and variations in general populations in eight disease-causing genes

2023-06-23

Abstract excerpt

<title>Abstract</title> <p>To dissect nonsense mutations to be treated with tRNAs, variations within eight genes causing primary hyperammonemia were evaluated. Overall, 156 patient mutation and 60 variation sites were reported in 140 publications and in two genomic databases of 114,878 participants, respectively. Counting the frequency revealed that CGA>TGA was by far the hottest spot, accounting for 41% of patie...

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Literature Corpus work: 65bd65eb-a39c-5df1-9e3a-5a0b4ba625d2
DOI: 10.21203/rs.3.rs-3090477/v1

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