Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q20P
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NF1

NM_001042492.3:p.Q20P

Associated Papers

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Carcavilla A et al.

Journal of Clinical Medicine, 2023

37568403 (PubMed )
Supplement: jcm-12-05003-s001.zip › jcm-2490499-supplementary.pdf

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.

Giugliano T et al.

Genes, 2019

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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."