Varaico: Literature-Extracted Genetic Variants

Gene:TMEM191B
Variant:p.R265*
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TMEM191B

NM_001242313.1:p.R265*

Associated Papers

Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families.

Kittaka M et al.

Jbmr Plus, 2024

38699440 (PubMed )
Supplement: supplementary_table_1_new_ziae050.xlsx › Supplementary_Table_1

Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Friedman D et al.

Npj Genomic Medicine, 2018

29619247 (PubMed )
Supplement: 41525_2018_48_MOESM3_ESM.xlsx › Sheet1
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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."