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Q34517554-66309D48-71C7-4217-80F5-5BB158FF8397
Q34517554-66309D48-71C7-4217-80F5-5BB158FF8397
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34517554-66309D48-71C7-4217-80F5-5BB158FF8397
SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.
P2860
Q34517554-66309D48-71C7-4217-80F5-5BB158FF8397
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34517554-66309D48-71C7-4217-80F5-5BB158FF8397
rank
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type
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wasDerivedFrom
ba719658cd91e0c2d592a98085044210ee61708b
P2860
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.