Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E1356*
Back to variants list

NF1

NM_001042492.3:p.E1356*

Associated Papers

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.

Vernimmen V et al.

Human Reproduction (oxford, England), 2026

41289058 (PubMed )
Supplement: deaf224_supplementary_table_s1.pdf

Heterogeneous disease-propagating stem cells in juvenile myelomonocytic leukemia.

Louka E et al.

The Journal of Experimental Medicine, 2021

33416891 (PubMed )
Supplement: JEM_20180853_TableS1.xlsx › Clincal___Hematologic_Data

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.

Xu W et al.

International Journal of Molecular Medicine, 2014

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."