Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A9
Variant:p.V172M
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SLC26A9

NM_052934.4:p.V172M

Associated Papers

Advances in haplotype phasing and genotype imputation.

Sun Q et al.

Nature Reviews. Genetics, 2026

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Wong S et al.

Embo Molecular Medicine, 2023

37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Compound_Hets

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

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › d__Freq_TP093

CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?

Gaitch N et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 0

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