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Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.
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De novo mutations in moderate or severe intellectual disability.
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Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 893.339
Probing the caveolin-1 P132L mutant: critical insights into its oligomeric behavior and structure.
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Biochemistry, 2012
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