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rs113560320 in
SDHAF2 gene and
Neoplastic Syndromes, Hereditary
PMID 20071235 2010 SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
PMID 19628817 2009 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.
PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.
PMID 28099933 2017 Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
PMID 24414418 2014 Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.
PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.
rs113560320 in
SDHAF2 gene and
PARAGANGLIOMAS 2 (disorder)
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