Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.P313H
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MEFV

NM_000243.3:p.P313H

Associated Papers

Mediterranean fever (MEFV) gene profile and a novel missense mutation (P313H) in Iranian Azari-Turkish patients.

Rostamizadeh L et al.

Annals of Human Genetics, 2020

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf
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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."