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Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

Table 1

Functional significance of ACVRL1 mutations.

Previously known mutations are indicated in bold. *Patients with another described mutation in ENG.

Table 1

doi: https://doi.org/10.1371/journal.pone.0132111.t001