Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.R105W
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GFAP

NM_002055.5:p.R105W

Associated Papers

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

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4

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

Song X et al.

Molecular Medicine Reports, 2021

Alexander disease.

Messing A

Handbook of Clinical Neurology, 2018

CSF and Blood Levels of GFAP in Alexander Disease

Jany PL et al.

Eneuro, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 452.202

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › a549_f40r3
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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."