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1
Q58827694-504C7FBE-9F0C-43A5-B857-6251A6786BF4
Q58827694-504C7FBE-9F0C-43A5-B857-6251A6786BF4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58827694-504C7FBE-9F0C-43A5-B857-6251A6786BF4
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
P50
Q58827694-504C7FBE-9F0C-43A5-B857-6251A6786BF4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58827694-504C7FBE-9F0C-43A5-B857-6251A6786BF4
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
6830a021e322f298ed5d5c4dab3a1d6dc492b9d4
P1545
13
http://www.w3.org/2001/XMLSchema#string
P50
Claudio Pignata