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Q42293062-A13A1661-8402-4090-96E1-B3B605EEB6D9
Q42293062-A13A1661-8402-4090-96E1-B3B605EEB6D9
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Statement
http://www.wikidata.org/entity/statement/Q42293062-A13A1661-8402-4090-96E1-B3B605EEB6D9
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.
P2860
Q42293062-A13A1661-8402-4090-96E1-B3B605EEB6D9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42293062-A13A1661-8402-4090-96E1-B3B605EEB6D9
rank
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type
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wasDerivedFrom
15e3b129db0bc85f8d7c44a41c33e0f959291b46
P2860
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.