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Publications by Amna Z. Shah

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa With Incomplete Penetrance

Molecular Biology

Cancer Research

English

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Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing

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Rhodopsin Mutations in Chinese Patients With Retinitis Pigmentosa

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

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Mosaicism and Incomplete Penetrance of PCDH19 Mutations

Journal of Medical Genetics

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Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families

Archives of Ophthalmology

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Perspective on Genes and Mutations Causing Retinitis Pigmentosa

Archives of Ophthalmology

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Neurofibromatosis and Retinitis Pigmentosa- Is There a Link?

Journal of Medical Science And clinical Research

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High Prevalence of Mutations in theEYSGene in Japanese Patients With Autosomal Recessive Retinitis Pigmentosa

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A Combined in Silico, in Vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa

Frontiers in Genetics

Molecular Medicine

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Prevalence of Mutations Causing Retinitis Pigmentosa and Other Inherited Retinopathies

English