PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.
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PharmGKB contains no Clinical Variants that meet the highest level of criteria.
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The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.
|Alternate Symbols: ||EPM1B; FLJ31937|
|PharmGKB Accession Id:||PA134906946|
|Cytogenetic Location:||chr12 : q12 - q12|
|GP mRNA Boundary†:||chr12 : 42852140 - 42983572|
|GP Gene Boundary†:||chr12 : 42849140 - 42993572|
Publications related to PRICKLE1: 1
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- DG Dosing Guideline information is available
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- CA High-level Clinical Annotation is available
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||A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. American journal of human genetics. 2008. Bassuk Alexander G, et al.|