Varaico: Literature-Extracted Genetic Variants

Gene:SEMA4A
Variant:p.D345H
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SEMA4A

NM_022367.4:p.D345H

Associated Papers

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

Exome sequencing study of 20 patients with high myopia.

Wan L et al.

Peerj, 2018

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Schulz E et al.

Nature Communications, 2014

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 2014

A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration.

Nojima S et al.

Nature Communications, 2013

SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells.

Tsuruma K et al.

Investigative Ophthalmology & Visual Science, 2012

Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.

Abid A et al.

Journal of Medical Genetics, 2006

On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness.

Bryant L et al.

Ophthalmic Genetics, 0

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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."