SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

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Oxford University Press

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New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

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Missense mutations in β-1,3- N -acetylglucosaminyltransferase 1 ( B3GNT1 ) cause Walker-Warburg syndrome

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Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

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The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations

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