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Article

Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.

Clinical rheumatology - 1 Sept 2021

Fritz Daan, Ferwerda Bart, Brouwer Matthijs C, van de Beek Diederik

Abstract excerpt

OBJECTIVE: We studied genetic risk factors associated with sarcoidosis within a family with a high prevalence of this disease. METHODS: We studied 41 members of a family with a high rate of sarcoidosis, including an index patient with treatment-resistant neurosarcoidosis. Whole genome sequencing was performed for six affected family members and variations associated with loss of function were filtered out as...

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Identifiers

PMID: 33903979
DOI: 10.1007/s10067-021-05684-w
PMCID: PMC8357727

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