Quantitative evidence evaluation for singleton rare missense variants in rare distinctive adult-onset phenotypes: the exemplar of SDHB and SDHD

Hypoxia has wide-ranging impact in normal physiology and disease processes. This stimulus evokes changes in gene expression mediated by transcription factors termed hypoxia-inducible factors (HIFs) that affect numerous processes: angiogenesis, cell survival, cellular metabolism, stem cell self-renewal and multipotency, migration, invasiveness, and metastatic progression in tumor cells. Over the past decade, increasing numbers of reports have...