Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.L64P
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ERN2

NM_033266.4:p.L64P

Associated Papers

Prediction and evaluation of deleterious and disease causing non-synonymous SNPs (nsSNPs) in human NF2 gene responsible for neurofibromatosis type 2 (NF2).

Havranek B et al.

Journal of Biomolecular Structure & Dynamics, 2021

CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

Bahi-Buisson N et al.

Molecular Syndromology, 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."