Varaico: Literature-Extracted Genetic Variants

Gene:SUPT5H
Variant:p.E455D
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SUPT5H

NM_001111020.3:p.E455D

Associated Papers

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Sierant MC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40127276 (PubMed )
Supplement: pnas.2420343122.sd04.xlsx › DS4._Panel_Mutations

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
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