Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.R143Q
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MEFV

NM_000243.3:p.R143Q

Associated Papers

Resolving the phylogenetic origin of glioblastoma via multifocal genomic analysis of pre-treatment and treatment-resistant autopsy specimens.

Brastianos PK et al.

Npj Precision Oncology, 2017

29872714 (PubMed )
Supplement: 41698_2017_35_MOESM2_ESM.xlsx › phylogic_mafs

Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature.

Welch KO et al.

American Journal of Medical Genetics. Part A, 2007

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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."