From: A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features
Causative variant
Predicted protein change
Identified families
TERT: c.2648 T > G
p.Phe883Cys
R0892
TERT: c.1892 G > A
p.Arg631Gln
R0851
TERT: c.2594 G > A
p.Arg865His
R1254