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Q36228224-64C7CDC4-8331-4C84-ADCB-A9F05AACEBD4
Q36228224-64C7CDC4-8331-4C84-ADCB-A9F05AACEBD4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36228224-64C7CDC4-8331-4C84-ADCB-A9F05AACEBD4
Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.
P2860
Q36228224-64C7CDC4-8331-4C84-ADCB-A9F05AACEBD4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36228224-64C7CDC4-8331-4C84-ADCB-A9F05AACEBD4
rank
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Statement
wasDerivedFrom
0873eef5e90c751dc4b2e8954278c715918d4e29
P2860
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism.