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Q41294079-2BD53B96-7C7A-4B54-9704-3D8C8A7037C7
Q41294079-2BD53B96-7C7A-4B54-9704-3D8C8A7037C7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41294079-2BD53B96-7C7A-4B54-9704-3D8C8A7037C7
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.
P2860
Q41294079-2BD53B96-7C7A-4B54-9704-3D8C8A7037C7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41294079-2BD53B96-7C7A-4B54-9704-3D8C8A7037C7
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wasDerivedFrom
537b2e01219832a71a0e8b7c889365d593fb67ff
P2860
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.