Varaico: Literature-Extracted Genetic Variants

Gene:TMEM185B
Variant:p.A42G
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TMEM185B

NM_024121.3:p.A42G

Associated Papers

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

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

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-A04Y-01A.domain
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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."