Article

Functional assays combined with pre-mRNA splicing analysis improve variant classification and diagnostics for individuals with Neurofibromatosis type 1 and Legius syndrome.

2022-05-10

Abstract excerpt

Neurofibromatosis type 1 (NF1) and Legius syndrome (LS) are caused by inactivating variants in NF1 and SPRED1 . NF1 encodes neurofibromin (NF), a GTPase activating protein (GAP) for RAS, that interacts with the SPRED1 product, Sprouty-related protein with an EVH (Ena/Vasp homology) domain 1 (SPRED1). Establishing a clinical and molecular diagnosis of NF1 or LS can be challenging due to the phenotypic diversity...

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Literature Corpus work: c64bfb4e-0767-5216-818d-4be8eb4c5e74
DOI: 10.22541/au.165217208.81458305/v1

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