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Q37071684-1F3B5F24-7500-4954-927D-2A31DC07A683
Q37071684-1F3B5F24-7500-4954-927D-2A31DC07A683
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http://www.wikidata.org/entity/statement/Q37071684-1F3B5F24-7500-4954-927D-2A31DC07A683
Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.
P2860
Q37071684-1F3B5F24-7500-4954-927D-2A31DC07A683
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37071684-1F3B5F24-7500-4954-927D-2A31DC07A683
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wasDerivedFrom
040125481b2e668aed1e3463baca8442f5a92b8c
P2860
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV