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1
Q47688311-AC7E9DA9-60D9-47B5-BF2E-C5F4D947D985
Q47688311-AC7E9DA9-60D9-47B5-BF2E-C5F4D947D985
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47688311-AC7E9DA9-60D9-47B5-BF2E-C5F4D947D985
A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
P50
Q47688311-AC7E9DA9-60D9-47B5-BF2E-C5F4D947D985
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47688311-AC7E9DA9-60D9-47B5-BF2E-C5F4D947D985
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
9e4cd46e30fd4e8ab6fcb7d5242d12f626ab406d
P1545
3
http://www.w3.org/2001/XMLSchema#string
P50
Małgorzata Rydzanicz