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Q41294079-775020A3-4521-41C0-9882-92F077C6118A
Q41294079-775020A3-4521-41C0-9882-92F077C6118A
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http://www.wikidata.org/entity/statement/Q41294079-775020A3-4521-41C0-9882-92F077C6118A
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.
P2860
Q41294079-775020A3-4521-41C0-9882-92F077C6118A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41294079-775020A3-4521-41C0-9882-92F077C6118A
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537b2e01219832a71a0e8b7c889365d593fb67ff
P2860
Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.