Varaico: Literature-Extracted Genetic Variants

Gene:MPDZ
Variant:p.R744*
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MPDZ

NM_001378778.1:p.R744*

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

Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred.

Saleem IB et al.

Genes, 2021

The genetic landscape of familial congenital hydrocephalus.

Shaheen R et al.

Annals of Neurology, 2017

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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."