Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L3
Variant:p.R568S
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NFE2L3

NM_004289.7:p.R568S

Associated Papers

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Tang CSM et al.

Jci Insight, 2022

34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable7._Rec_CADD20

H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus.

Ding J et al.

Brain and Behavior, 2020

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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."