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Q33410815-BE831138-EDDF-4BC9-B2D4-47CF36234B9A
Q33410815-BE831138-EDDF-4BC9-B2D4-47CF36234B9A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33410815-BE831138-EDDF-4BC9-B2D4-47CF36234B9A
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.
P2860
Q33410815-BE831138-EDDF-4BC9-B2D4-47CF36234B9A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33410815-BE831138-EDDF-4BC9-B2D4-47CF36234B9A
rank
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Statement
wasDerivedFrom
84dede5cf38bedb8b44f7380ffc2410492c5b465
P2860
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia