Varaico: Literature-Extracted Genetic Variants

Gene:KCNK18
Variant:p.L138_F139delFs
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KCNK18

NM_181840.1:p.L138_F139delFs

Associated Papers

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Mighton C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Case Report: Decoding genetic risks of vascular parkinsonism: a case series.

Shalash A et al.

Frontiers in Genetics, 2025

40786864 (PubMed )
Supplement: Table1.xlsx › S.table1

A comprehensive analysis of germline predisposition to early-onset ovarian cancer.

Horackova K et al.

Scientific Reports, 2024

39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list

Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy.

Ślęczkowska M et al.

International Journal of Molecular Sciences, 2022

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
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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."