Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.M590delFs
Back to variants list

NF1

NM_001042492.3:p.M590delFs

Associated Papers

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.

Zanoni P et al.

European Journal of Human Genetics : Ejhg, 2023

37012328 (PubMed )
Supplement: 41431_2023_1320_MOESM4_ESM.pdf

Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.

Xiong J et al.

Frontiers in Neuroscience, 2019

31031587 (PubMed )
Supplement: Table_1.XLSX › no_ASD_group

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Herkert JC et al.

European Journal of Cancer (oxford, England : 1990), 2011

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."