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Q38726293-BB595776-7541-4070-BC4C-A44EBD240737
Q38726293-BB595776-7541-4070-BC4C-A44EBD240737
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38726293-BB595776-7541-4070-BC4C-A44EBD240737
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.
P2860
Q38726293-BB595776-7541-4070-BC4C-A44EBD240737
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38726293-BB595776-7541-4070-BC4C-A44EBD240737
rank
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Statement
wasDerivedFrom
96b289ba174a2ebfe0494a00c258f3e03c2d47dd
P2860
The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches.