JAMES LUPSKI to Deafness
This is a "connection" page, showing publications JAMES LUPSKI has written about Deafness.
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0.161
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Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol. 2002 Feb; 51(2):190-201.
Score: 0.045
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Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet. 2001 Nov; 109(5):535-41.
Score: 0.044
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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain. 2020 01 01; 143(1):112-130.
Score: 0.039
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Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. Am J Hum Genet. 1998 Apr; 62(4):904-15.
Score: 0.034