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Submitted by admin on June 23, 2011 - 2:08pm
A free resource that provides access to information and support for individuals and families living with developmental disabilities.
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Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E et al.. 2013. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.. Human mutation. 34(8):1111-8.