PC c.80del ;(p.P27Qfs*38)

Variant ID: 11-66639550-TG-T

NM_001040716.1(PC):c.80del;(p.P27Qfs*38)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia.

Jhep Reports : Innovation In Hepatology
Haring, Martijn P D MPD; Peeks, Fabian F; Oosterveer, Maaike H MH; Brouwers, Martijn C G J MCGJ; Hollak, Carla E M CEM; Janssen, Mirian C H MCH; Langendonk, Janneke G JG; Rennings, Alexander J M AJM; Wagenmakers, Margreet A E M MAEM; Verkade, Henkjan J HJ; Derks, Terry G J TGJ; de Meijer, Vincent E VE
Publication Date: 2022-08

Variant appearance in text: PC: 79delC
PubMed Link: 35811762
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Serum circulating miRNA-342-3p as a potential diagnostic biomarker in parathyroid carcinomas: A pilot study.

Endocrinology, Diabetes & Metabolism
Krupinova, Julia J; Mokrysheva, Natalya N; Petrov, Vasiliy V; Pigarova, Ekaterina E; Eremkina, Anna A; Dobreva, Ekaterina E; Ajnetdinova, Alina A; Melnichenko, Galina G; Tiulpakov, Anatoly A
Publication Date: 2021-10

Variant appearance in text: PC: 78delC
PubMed Link: 34505413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Serum circulating miRNA-342-3p as a potential diagnostic biomarker in parathyroid carcinomas: A pilot study.

Endocrinology, Diabetes & Metabolism
Krupinova, Julia J; Mokrysheva, Natalya N; Petrov, Vasiliy V; Pigarova, Ekaterina E; Eremkina, Anna A; Dobreva, Ekaterina E; Ajnetdinova, Alina A; Melnichenko, Galina G; Tiulpakov, Anatoly A
Publication Date: 2021-10

Variant appearance in text: PC: 78delC
PubMed Link: 34505413
Variant Present in the following documents:
  • Main text
View BVdb publication page