Varaico: Literature-Extracted Genetic Variants

Gene:MSN
Variant:p.K79E
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MSN

NM_002444.3:p.K79E

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

The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product.

Kang BS et al.

Acta Crystallographica. Section D, Biological Crystallography, 2002

Functional analysis of neurofibromatosis 2 (NF2) missense mutations.

Gutmann DH et al.

Human Molecular Genetics, 2001

Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations.

Stokowski RP et al.

American Journal of Human Genetics, 2000

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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."