Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.D187N
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ACTG1

NM_001614.5:p.D187N

Associated Papers

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Wonkam A et al.

Communications Biology, 2022

The structure of N184K amyloidogenic variant of gelsolin highlights the role of the H-bond network for protein stability and aggregation properties.

de Rosa M et al.

European Biophysics Journal : Ebj, 2020

Genetic modification of primary human B cells to model high-grade lymphoma.

Caeser R et al.

Nature Communications, 2019

31586074 (PubMed )
Supplement: 41467_2019_12494_MOESM6_ESM.xlsx › Merged_Variants_MUT_CAV
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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."