Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L834insFs
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NF1

NM_001042492.3:p.L834insFs

Associated Papers

GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact.

Violante IR et al.

Brain : a Journal of Neurology, 2013

Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.

Ribeiro MJ et al.

Investigative Ophthalmology & Visual Science, 2012

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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."