Variant: rs1085307433

present in Gene: ENG;LOC102723566 present in Chromosome: 9 Position on Chromosome: 127818734 Alleles of this Variant: C/-

rs1085307433 in ENG;LOC102723566 gene and HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION PMID 15115879 2004 Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension.

rs1085307433 in ENG;LOC102723566 gene and Hereditary hemorrhagic telangiectasia PMID 15115879 2004 Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension.

PMID 15024723 2004 Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.