PMCH c.226G>C ;(p.E76Q)

Variant ID: 12-102591323-C-G

NM_002674.2(PMCH):c.226G>C;(p.E76Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


HbD Punjab/HbQ India Compound Heterozygosity: An Unusual Association.

Mediterranean Journal Of Hematology And Infectious Diseases
Colaco, Stacy S; Surve, Reema R; Sawant, Pratibha P; Nadkarni, Anita A; Ghosh, Kanjaksha K; Colah, Roshan R
Publication Date: 2014

Variant appearance in text: MCH: 226G>C
PubMed Link: 25408858
Variant Present in the following documents:
  • Main text
  • mjhid-6-1-e2014072.pdf
View BVdb publication page



Hemoglobin Q-Iran detected in family members from Northern Iran: a case report.

Journal Of Medical Case Reports
Khorshidi, Mohammad M; Roshan, Payam P; Bayat, Nooshin N; Mahdavi, Mohammad Reza MR; Najmabadi, Hossein H
Publication Date: 2012-02-06

Variant appearance in text: MCH: 226G>C
PubMed Link: 22309992
Variant Present in the following documents:
  • Main text
  • 1752-1947-6-47.pdf
View BVdb publication page