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Q36487292-4435DC1C-B6E0-4FAC-9047-503C424222F7
Q36487292-4435DC1C-B6E0-4FAC-9047-503C424222F7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36487292-4435DC1C-B6E0-4FAC-9047-503C424222F7
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
P2860
Q36487292-4435DC1C-B6E0-4FAC-9047-503C424222F7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36487292-4435DC1C-B6E0-4FAC-9047-503C424222F7
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Statement
wasDerivedFrom
b57c969af55786272ff9b9f05b19a2d1e37e5e0c
P2860
A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance