Human pathology

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UNC13D

MIM.608897 17q25.1

MUNC13-4, C. elegans homolog D, UNC13D

Pathology

- germline mutations in familial hemophagocytic lymphohistiocytosis-3 (FHL3) (MIM.608898)

References

- Hong W. Cytotoxic T lymphocyte exocytosis: bring on the SNAREs! Trends Cell Biol. 2005 Dec;15(12):644-50. PMID: 16260137