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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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