Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q514P
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NF1

NM_001042492.3:p.Q514P

Associated Papers

Association of pituitary neuroendocrine tumors and neurofibromatosis type 1: assessing causation versus coincidence. Case report.

Aguilar-Soto M et al.

Frontiers in Endocrinology, 2025

Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess.

Hannah-Shmouni F et al.

Journal of Clinical Medicine, 2022

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

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM5_ESM.xlsx › SD2
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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."