ERMAP c.985T>C ;(p.W329R)

Variant ID: 1-43308460-T-C

NM_001017922.1(ERMAP):c.985T>C;(p.W329R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine
Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-01-13

Variant appearance in text: ERMAP: W329R; rs145639841
PubMed Link: 35033986
Variant Present in the following documents:
  • mmc2.xlsx, sheet 13
  • mmc3.xlsx, sheet 11
View BVdb publication page



RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine
Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-02

Variant appearance in text: ERMAP: W329R; rs145639841
PubMed Link: 35033986
Variant Present in the following documents:
  • mmc2.xlsx, sheet 13
  • mmc3.xlsx, sheet 11
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: ERMAP: W329R
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page