Varaico: Literature-Extracted Genetic Variants

Gene:TMEM126B
Variant:p.E23K
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TMEM126B

NM_018480.7:p.E23K

Associated Papers

Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.

Sakuma I et al.

Communications Biology, 2023

37507476 (PubMed )
Supplement: 42003_2023_5160_MOESM7_ESM.xlsx › validated_by_Mutalyzer

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7
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