HUDA ZOGHBI to Mutation, Missense
This is a "connection" page, showing publications HUDA ZOGHBI has written about Mutation, Missense.
Connection Strength
0.829
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An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry. 2020 10; 25(10):2534-2555.
Score: 0.462
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
Score: 0.109
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An Atoh1-S193A Phospho-Mutant Allele Causes Hearing Deficits and Motor Impairment. J Neurosci. 2017 09 06; 37(36):8583-8594.
Score: 0.104
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Karyopherin a 3 and karyopherin a 4 proteins mediate the nuclear import of methyl-CpG binding protein 2. J Biol Chem. 2015 Sep 11; 290(37):22485-93.
Score: 0.091
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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000 May; 47(5):670-9.
Score: 0.032
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NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9.
Score: 0.020
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The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12; 64(7):1258-60.
Score: 0.011