Varaico: Literature-Extracted Genetic Variants

Gene:MPDZ
Variant:p.S1752*
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MPDZ

NM_001378778.1:p.S1752*

Associated Papers

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.

Rad A et al.

Clinical Genetics, 2024

Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.

Iyengar R et al.

Ophthalmic Genetics, 2023

Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family.

Zhang S et al.

Cells, 2022

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.

Ali M et al.

Investigative Ophthalmology & Visual Science, 2011

Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa.

Burt DW et al.

Molecular Vision, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."