Article

<i>In silico</i> Analysis of Nonsynonymous Genomic Variants within <i>CCM2</i> Gene Reaffirm the Existence of Dual Cores within Typical PTB Domain

2021-11-10

Abstract excerpt

<h4>Purpose</h4> The objective of this study is to validate the existence of dual cores within the typical phosphotyrosine binding (PTB) domain and to identify potentially damaging and pathogenic nonsynonymous coding single nuclear polymorphisms (nsSNPs) in the canonical PTB domain of the CCM2 gene that causes cerebral cavernous malformations (CCMs). <h4>Methods</h4> The nsSNPs within the coding sequence for P...

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Literature Corpus work: f60177f4-f25c-5514-aaaf-d90a6bb23c2a
DOI: 10.1101/2021.11.09.467991

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