• Mutation; HGNC; HGNC:171; ACVR1; Simple; p.Gly328Val (c.983G>T); ClinVar=VCV000376363; Zygosity=Unspecified (PubMed=28823557).
  
• Mutation; HGNC; HGNC:4776; H3C2; Simple; p.Lys28Met (c.83A>T) (H3.1K27M); Zygosity=Unspecified (PubMed=25939062).
  

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PubMed=31439867; DOI=10.1038/s41467-019-11732-6; PMCID=PMC6706443
Fons N.R., Sundaram R.K., Breuer G.A., Peng S., McLean R.L., Kalathil A.N., Schmidt M.S., Carvalho D.M., Mackay A., Jones C., Carcaboso A.M., Nazarian J., Berens M.E., Brenner C., Bindra R.S.
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PubMed=34078608; DOI=10.1126/sciadv.abg4126; PMCID=PMC10166578
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