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Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
Molecular Vision, 05/28/09
Riazuddin SA et al. - Data report two novel missense mutations in two consanguineous Pakistani families affected with MSS.
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Genetic diversity and medicinal drug response in eye care
Graefe's Archive for Clinical and Experimental Ophthalmology, 03/19/10
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions
Human Mutation, 03/19/10
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes
Human Mutation, 03/19/10
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