Varaico: Literature-Extracted Genetic Variants

Gene:MFSD6
Variant:p.R205G
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MFSD6

NM_017694.4:p.R205G

Associated Papers

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Block T et al.

Frontiers in Oncology, 2022

36582804 (PubMed )
Supplement: Table_2.xlsx › Sheet1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0CT-01A.domain

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › coding
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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."