Varaico: Literature-Extracted Genetic Variants

Gene:MPDZ
Variant:p.G782R
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MPDZ

NM_001378778.1:p.G782R

Associated Papers

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Perez-Carro R et al.

Scientific Reports, 2016

26806561 (PubMed )
Supplement: srep19531-s4.pdf

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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