Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A2
Variant:p.R107Q
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SLC4A2

NM_003040.4:p.R107Q

Associated Papers

Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.

Handelman SK et al.

Hepatology Communications, 2022

36098472 (PubMed )
Supplement: HEP4-6-3120-s001.xlsx › ST6

Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.

Calvete O et al.

Cells, 2021

34944008 (PubMed )
Supplement: cells-10-03500-s001.zip › Supplemental_Table_S2.pdf

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S15_S8_Detailed_mutation_FIg.5g

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 289.143
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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."