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Table 2 Genetic information of the patient from whole exosome sequencing

From: Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report

Gene/transcript Exosome number varianta Mutation type Pathogenicity classification Genetic mode Disease/phenotype RS number
EIF2AK4
NM_001013703.3
38 c4833_4836dup
p.Q1613Kfs*10
Het Likely pathogenic AR PVOD Rs768394773
  1. AR autosomal recessive, PVOD pulmonary veno-occlusive disease
  2. aVariant name followed Human Genome Variation Society nomenclature (http://varnomen.hgvs.org/)