Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.R177R
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ACTG1

NM_001614.5:p.R177R

Associated Papers

Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.

Brodie SA et al.

Cold Spring Harbor Molecular Case Studies, 2021

34162668 (PubMed )
Supplement: supp_mcs.a006015_Supplemental_TableS1-extended-variants.xlsx › Table_S2

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
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