ELN c.1522G>T ;(p.G508C)

Variant ID: 7-73474323-G-T

NM_000501.3(ELN):c.1522G>T;(p.G508C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Archives Of Medical Science : Ams
Bonaventura, Jiří J; Norambuena, Patricia P; Tomašov, Pavol P; Jindrová, Denisa D; Šedivá, Hana H; Macek, Milan M; Veselka, Josef J
Publication Date: 2019-05

Variant appearance in text: ELN: Gly508Cys
PubMed Link: 31110529
Variant Present in the following documents:
  • AMS-15-33903-S1.pdf
View BVdb publication page



Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Genomics & Informatics
Yoon, Kyong-Ah KA; Woo, Sang Myung SM; Kim, Yun-Hee YH; Kong, Sun-Young SY; Han, Sung-Sik SS; Park, Sang-Jae SJ; Lee, Woo Jin WJ
Publication Date: 2018-12

Variant appearance in text: ELN: 1522G>T
PubMed Link: 30602096
Variant Present in the following documents:
  • Main text
  • gi-2018-16-4-e35.pdf
View BVdb publication page