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Q58827694-32C445EB-A312-4561-9A1B-B67277678436
Q58827694-32C445EB-A312-4561-9A1B-B67277678436
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58827694-32C445EB-A312-4561-9A1B-B67277678436
De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype
P2860
Q58827694-32C445EB-A312-4561-9A1B-B67277678436
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58827694-32C445EB-A312-4561-9A1B-B67277678436
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
d96bcf9e9f8166e75fa7d6f48a4392e511642f30
P2860
A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair.