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Q37415204-003AECDB-24D2-4490-AC49-BDA74B2E508E
Q37415204-003AECDB-24D2-4490-AC49-BDA74B2E508E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37415204-003AECDB-24D2-4490-AC49-BDA74B2E508E
--LUBAC deficiency perturbs TLR3 signaling to cause immunodeficiency and autoinflammation.
P2860
Q37415204-003AECDB-24D2-4490-AC49-BDA74B2E508E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37415204-003AECDB-24D2-4490-AC49-BDA74B2E508E
rank
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type
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Statement
wasDerivedFrom
638b74f5a4fb02ee06cf038abaa46b5eefc01156
P2860
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement