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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneAR
Other namesKD; AIS; TFM; DHTR; SBMA; NR3C4; SMAX1; HUMARA
Gene nameandrogen receptor
Gene inheritance categorySALS genes
CategoryOTHER PROCESSES
ChromosomeXq11.2
BackgroundCauses Kennedy spinal and bulbar muscular atrophy.
ResultNo association with human ALS demonstrated/ replicated
Total Mutations0
Total Affected0

BIOINFORMATICS

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KEY PUBLICATIONS (2)

First_AuthorYearTitlePaper
Garofalo1993Androgen receptor gene polymorphisms in amyotrophic lateral sclerosisFull_Paper
Parboosingh1997Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALSFull_Paper

GENETIC VARIATIONS

SNP (rs)BasepairpvalueAuthorYearTermPaper
   Garofalo1993GRCh37Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis
   Parboosingh1997GRCh37Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALS
        
 
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