Search Results - "pathogenic variant"
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1
Genetics and Genomics of Pulmonary Arterial Hypertension
Published 2022Subjects: “…pathogenic variant…”
DOAB: download the publication
DOAB: description of the publication
Electronic Book Chapter -
2
Molecular Basis and Gene Therapies of Cystic Fibrosis
Published 2020Subjects: “…common and new pathogenic variants…”
DOAB: download the publication
DOAB: description of the publication
Electronic Book Chapter -
3
Cellular and Molecular Mechanisms of Nephropathic Cystinosis
Published 2022Subjects: “…CTNS-pathogenic variants…”
DOAB: download the publication
DOAB: description of the publication
Electronic Book Chapter