Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S574Splc
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NF1

NM_001042492.3:p.S574Splc

Associated Papers

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants.

Morbidoni V et al.

Cancers, 2021

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

Wimmer K et al.

Human Mutation, 2020

32126153 (PubMed )
Supplement: HUMU-41-1145-s001.xlsx › Suppl._Table_S1

Children with 5'-end NF1 gene mutations are more likely to have glioma.

Anastasaki C et al.

Neurology. Genetics, 2017

28955729 (PubMed )
Supplement: supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Sabbagh A et al.

Human Mutation, 2013

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

Pros E et al.

Human Mutation, 2008

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