Varaico: Literature-Extracted Genetic Variants

Gene:MPDZ
Variant:p.P249_V250Splc
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MPDZ

NM_001378778.1:p.P249_V250Splc

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

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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."