Article

Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine

2021-07-05

Abstract excerpt

We have created a panel of twenty-nine NF1 variant cDNAs representing benign missense (MS) variants, pathogenic MS variants, many with clinically relevant phenotypes, in-frame deletions, splice variants, and nonsense (NS) variants. We have determined the functional consequences of the variants, assessing their ability to produce mature neurofibromin and restore Ras signaling activity in NF1 null (-/-) cells. cDNAs...

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Literature Corpus work: f10359ed-08bf-5cf6-98a3-54d997202f67
DOI: 10.22541/au.162548333.34465362/v1

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