Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
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DOI: 10.1016/j.gim.2021.08.004
Abstract: Purpose The weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas (PCC/PGL), is uncertain. Methods We… read more here.
Keywords: vrmv; pathogenicity; sdhb sdhd; evidence ... See more keywords