Rare Diseases
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An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes. Schwartz Alison et al. Frontiers in oncology 2022 12942741 |
CLINGEN Actionability Report for Paragangliomas 1, 2, 3, 4, 5; Pheochromocytoma- MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127 ClinGen Actionability Working Group |