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Q33755919-57DFCA4B-28DE-4535-80AF-2E9D5573B7FE
Q33755919-57DFCA4B-28DE-4535-80AF-2E9D5573B7FE
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http://www.wikidata.org/entity/statement/Q33755919-57DFCA4B-28DE-4535-80AF-2E9D5573B7FE
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.
P2860
Q33755919-57DFCA4B-28DE-4535-80AF-2E9D5573B7FE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33755919-57DFCA4B-28DE-4535-80AF-2E9D5573B7FE
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wasDerivedFrom
8fdfd24319d89fbafcbccf3e2e529b25dd4821c5
P2860
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.