Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E41V
Back to variants list

NF1

NM_001042492.3:p.E41V

Associated Papers

New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing.

Dragoš VŠ et al.

Biology, 2021

Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I.

Setrajcic Dragos V et al.

Frontiers in Genetics, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."