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Q30448340-C24234E3-FF31-4E6A-A8C2-18C5A31FCB06
Q30448340-C24234E3-FF31-4E6A-A8C2-18C5A31FCB06
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30448340-C24234E3-FF31-4E6A-A8C2-18C5A31FCB06
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
P2860
Q30448340-C24234E3-FF31-4E6A-A8C2-18C5A31FCB06
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30448340-C24234E3-FF31-4E6A-A8C2-18C5A31FCB06
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type
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wasDerivedFrom
72418083839a0730fa9218fbd32c000aaa210a12
P2860
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.