Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S495_K498del4
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NF1

NM_001042492.3:p.S495_K498del4

Associated Papers

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

Chan AJS et al.

Nature Communications, 2022

36309498 (PubMed )
Supplement: 41467_2022_34112_MOESM4_ESM.xlsx › SupData_17

Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing.

Zhang ZY et al.

Frontiers in Genetics, 2021

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Melloni G et al.

Cancers, 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."