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Chunk #8 — Results — Mutation Screening of PTCHD1

Source
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
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yes

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Additional controls were sequenced for the exons in which missense mutations were identified. We tested control chromosomes for the sequence underlying the I173V and V195I mutations (N=1100 chromosomes), the ML336_337II mutation (N=1193), and the L73F, E479G, A470D and H359R mutations (N=869) and detected none of these variants.