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Q47708439-6BF4461D-0D6C-4C31-AC06-81683F548F69
Q47708439-6BF4461D-0D6C-4C31-AC06-81683F548F69
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http://www.wikidata.org/entity/statement/Q47708439-6BF4461D-0D6C-4C31-AC06-81683F548F69
Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.
P2860
Q47708439-6BF4461D-0D6C-4C31-AC06-81683F548F69
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47708439-6BF4461D-0D6C-4C31-AC06-81683F548F69
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wasDerivedFrom
57472cfb47750e9e311ea8fddfb60937add6129f
P2860
The molecular landscape of ASPM mutations in primary microcephaly.