Article

Bioinformatic analysis of human ZPR1 gene pathogenic exome mutations

2024-03-01

Abstract excerpt

Advanced sequencing technologies enable rapid detection of sequence variants, aiming to uncover the molecular foundations of human genetic disorders. The challenge lies in interpreting the influence of new exome variants that lead to diverse phenotypes. Our study introduces a detailed, multi-tiered method for assessing the impact of novel variants, particularly focusing on the zinc finger protein 1 (ZPR1) gene. He...

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Literature Corpus work: 5eba3427-6bd0-59ea-bda3-aee902bc4fb2
DOI: 10.1101/2024.02.27.582196

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