Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.H647Y
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NF1

NM_001042492.3:p.H647Y

Associated Papers

Importance of genetic testing in unexplained cardiac arrest.

Grondin S et al.

European Heart Journal, 2022

35352813 (PubMed )
Supplement: ehac145_supplementary_data.zip › CASPER_WES228_supplement_tables_-_R1.xlsx › Supp._Table_5

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Leier A et al.

Molecular Therapy. Nucleic Acids, 2022

35433111 (PubMed )
Supplement: mmc1.pdf

Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Georgoulias G et al.

Frontiers in Immunology, 2022

36389735 (PubMed )
Supplement: Table_7.xlsx › NF1

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

Accetturo M et al.

International Journal of Molecular Sciences, 2020

31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3
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