AHI1/Jouberin peptide

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  • Published date: November 23, 2018
    • Shirley, New York, United States

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. https://www.creative-diagnostics.com/AHI1-Jouberin-peptide-178581-436.htm .

Thomas Schmitt
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