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Q33624742-5E85FE32-57BC-437E-99FD-10F0402114C8
Q33624742-5E85FE32-57BC-437E-99FD-10F0402114C8
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http://www.wikidata.org/entity/statement/Q33624742-5E85FE32-57BC-437E-99FD-10F0402114C8
XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
P2860
Q33624742-5E85FE32-57BC-437E-99FD-10F0402114C8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33624742-5E85FE32-57BC-437E-99FD-10F0402114C8
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4df58fa8b4db05280b4eece74ddf1bc6c34b8a63
P2860
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.