Varaico: Literature-Extracted Genetic Variants

Gene:CR2
Variant:p.E1081E
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CR2

NM_001006658.3:p.E1081E

Associated Papers

Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls.

Gerrie SK et al.

Radiographics : a Review Publication of the Radiological Society of North America, Inc, 2025

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1

MELAS with multiple stroke-like episodes due to the variant m.13513G>A in MT-ND5.

Ghosh R et al.

Clinical Case Reports, 2022

Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations.

Yu XL et al.

Chinese Medical Journal, 2018

Mitochondrial Encephalopathy and Optic Neuropathy Due to m.10158 MT-ND3 Complex I Mutation Presenting in an Adult Patient: Case Report and Review of the Literature.

Vodopivec I et al.

The Neurologist, 2016

Transient ischemic attack-like episodes without stroke-like lesions in MELAS.

Mitani T et al.

Pediatric Radiology, 2013

Steroid responsive A3243G mutation MELAS: clinical and radiographic evidence for regional hyperperfusion leading to neuronal loss.

Walcott BP et al.

The Neurologist, 2012

[Study on the mitochondrial DNA mutations in patients with early-onset diabetes mellitus].

Yu DM et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

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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."