Varaico: Literature-Extracted Genetic Variants

Gene:MPDZ
Variant:p.V137F
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MPDZ

NM_001378778.1:p.V137F

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

Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family.

Moazzeni H et al.

The British Journal of Ophthalmology, 2020

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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."