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AHI1

Official Full Name
Abelson helper integration site 1
Organism
Homo sapiens
GeneID
54806
Background
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Synonyms
ORF1; AHI-1; JBTS3; dJ71N10.1;

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