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Table 1 Mutations found in telomere-related genes

From: Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

  1. *Patients analyzed by exon amplification and Sanger sequencing
  2. **The prediction shown is a summary of the ones made by the programs SIFT ensemble 66, Polyphen-2 v2.2.2, MutationAssessor, release 2, FATHMM v2.3, CADD v1.3 and dbscSNV1.1.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172