Concepedia

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

Fadi F. Hamdan, Hussein Daoud, Amélie Piton, Julie Gauthier, Sylvia Dobrzeniecka, Marie‐Odile Krebs, Ridha Joober, Jean‐Claude Lacaille, Amélie Nadeau, Jeff M. Milunsky,

Biological Psychiatry · 2011 · 192 citations · 18 references

DOI

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18

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei et al. · Nature · 2010 · 2K citations · Full text

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Prediction of deleterious human alleles

Shamil Sunyaev · Human Molecular Genetics · 2001 · 1K citations

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SynGAP: a Synaptic RasGAP that Associates with the PSD-95/SAP90 Protein Family

Jee Hae Kim, Dezhi Liao, Lit-Fui Lau et al. · Neuron · 1998 · 649 citations · Full text

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A Synaptic Ras-GTPase Activating Protein (p135 SynGAP) Inhibited by CaM Kinase II

Hong-Jung Chen, Michelle Rojas-Soto, Asako Oguni et al. · Neuron · 1998 · 605 citations · Full text

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