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Q34955438-5D80766C-5C2D-4E4D-8020-D1DFEC62C436
Q34955438-5D80766C-5C2D-4E4D-8020-D1DFEC62C436
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Statement
http://www.wikidata.org/entity/statement/Q34955438-5D80766C-5C2D-4E4D-8020-D1DFEC62C436
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
P2860
Q34955438-5D80766C-5C2D-4E4D-8020-D1DFEC62C436
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34955438-5D80766C-5C2D-4E4D-8020-D1DFEC62C436
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wasDerivedFrom
cf0115daa179fa0b0853c5d0036a727e2c4b2395
P2860
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.