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Q41643440-D69238AB-F1ED-4056-AB95-6FDD331C6F2E
Q41643440-D69238AB-F1ED-4056-AB95-6FDD331C6F2E
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Statement
http://www.wikidata.org/entity/statement/Q41643440-D69238AB-F1ED-4056-AB95-6FDD331C6F2E
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
P2860
Q41643440-D69238AB-F1ED-4056-AB95-6FDD331C6F2E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41643440-D69238AB-F1ED-4056-AB95-6FDD331C6F2E
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wasDerivedFrom
baf3c1e7a8690f313e390410339e5e72b17c1962
P2860
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.