Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.R221C
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KCNJ11

NM_000525.4:p.R221C

Associated Papers

Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Mota A et al.

Oncogene, 2022

35145232 (PubMed )
Supplement: 41388_2022_2221_MOESM3_ESM.xlsx › EEC-4

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Ferrari A et al.

Nature Communications, 2016

27406316 (PubMed )
Supplement: ncomms12222-s3.xlsx › genetab.txt

Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.

Meissner T et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2004

Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics.

Pande AR et al.

Indian Journal of Endocrinology and Metabolism, 0

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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."