Published in Genomics on June 10, 1995
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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum Mol Genet (2000) 1.84
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Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet (2000) 1.78
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Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat (1997) 1.74
A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet (2001) 1.69
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet (1999) 1.68
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. Behav Genet (2010) 1.67
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 1.67
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Clin Genet (2004) 1.67
Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science (1987) 1.66
Analysis of the human VPS13 gene family. Genomics (2004) 1.65
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet (1999) 1.65
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