Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.R66Q
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GFAP

NM_002055.5:p.R66Q

Associated Papers

Alexander Disease Due to a Homozygous GFAP Variant.

Rathod S et al.

Indian Journal of Pediatrics, 2025

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.

Grossi A et al.

Scientific Reports, 2024

39420046 (PubMed )
Supplement: 41598_2024_75383_MOESM2_ESM.xlsx › Suppl._Table_2

Older adult-onset Alexander disease with atypical clinicoradiological features: a case report.

Kang YR et al.

Frontiers in Neurology, 2023

Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.

Heshmatzad K et al.

European Journal of Medical Research, 2022

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.

Song X et al.

Molecular Medicine Reports, 2021

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Zhang T et al.

Neuropsychiatric Disease and Treatment, 2021

Recessively-Inherited Adult-Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene.

Fu MH et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Adult onset Alexander disease presenting with progressive spastic paraplegia.

Pedroso JL et al.

Parkinsonism & Related Disorders, 2014

Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep.

Hida A et al.

Journal of Neurology, 2012

[An atypical presentation of Infantile Alexander disease lacking macrocephaly].

Esmer C et al.

Boletin Medico Del Hospital Infantil De Mexico, 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."