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Article

Structure-based network analysis predicts mutations associated with inherited retinal disease

2023-07-06

Abstract excerpt

With continued advances in gene sequencing technologies comes the need to develop better tools to understand which mutations cause disease. Here we validate structure-based network analysis (SBNA) 1, 2 in well-studied human proteins and report results of using SBNA to identify critical amino acids that may cause retinal disease if subject to missense mutation. We computed SBNA scores for genes with high-quality st...

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Identifiers and source

Literature Corpus work
49b99b91-25b9-5fec-b8ce-cdb52ff3ae90
DOI
10.1101/2023.07.05.23292247
Open publication

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Structure-based network analysis predicts mutations associated with inherited retinal diseaseDOI 10.1101/2023.07.05.23292247
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