Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L1
Variant:p.R684H
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NFE2L1

NM_003204.3:p.R684H

Associated Papers

Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.

Yoon J et al.

Biomedicines, 2021

34572357 (PubMed )
Supplement: biomedicines-09-01172-s001.zip › biomedicines-1248799-supplementary.pdf

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.

Lam L et al.

Heartrhythm Case Reports, 2015

28491533 (PubMed )
Supplement: mmc1.docx
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