Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.K583insFs
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WNK1

NM_018979.4:p.K583insFs

Associated Papers

Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.

Bayanova M et al.

Bmc Nephrology, 2025

Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.

Feng Y et al.

Orphanet Journal of Rare Diseases, 2024

39363361 (PubMed )
Supplement: 13023_2024_3379_MOESM1_ESM.pdf

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

Zhu Y et al.

European Journal of Human Genetics : Ejhg, 2024

38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1

Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.

Wang Y et al.

Translational Vision Science & Technology, 2023

36735267 (PubMed )
Supplement: tvst-12-2-4_s001.xls › S1-Indels

Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.

Lu X et al.

Frontiers in Pharmacology, 2019

30787879 (PubMed )
Supplement: Data_Sheet_1.PDF

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review.

Peng W et al.

Case Reports in Nephrology and Dialysis, 0

41064627 (PubMed )
Supplement: Supplementary_material-Suppl.7-s7.xlsx › Supplementary_table_5
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