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Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med 20, 1022-1029 (2018).
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38, 1365-1371 (2017).
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet 47, 512-7 (2015).
Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med 191, 646-55 (2015).
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