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PDE7B c.83-70423A>C
Variant ID: 6-136359446-A-C
NM_018945.3(
PDE7B
):c.83-70423A>C
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Do Genetic Polymorphisms Affect Fetal Hemoglobin (HbF) Levels in Patients With Sickle Cell Anemia Treated With Hydroxyurea? A Systematic Review and Pathway Analysis.
Frontiers In Pharmacology
Sales, Rahyssa Rodrigues RR; Nogueira, Bárbara Lisboa BL; Tosatti, Jéssica Abdo Gonçalves JAG; Gomes, Karina Braga KB; Luizon, Marcelo Rizzatti MR
Publication Date: 2021
Variant appearance in text: rs9376173
PubMed Link:
35126118
Variant Present in the following documents:
Main text
fphar-12-779497.pdf
View BVdb publication page
Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.
Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021
Variant appearance in text: PDE7B: 83-70423A>C; rs9376173
PubMed Link:
34054912
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: PDE7B: 83-70423A>C; rs9376173
PubMed Link:
30319441
Variant Present in the following documents:
Table_7.xlsx, sheet 1
Table_6.xlsx, sheet 1
View BVdb publication page
An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine.
Omics : A Journal Of Integrative Biology
Mnika, Khuthala K; Pule, Gift D GD; Dandara, Collet C; Wonkam, Ambroise A
Publication Date: 2016-10
Variant appearance in text: rs9376173
PubMed Link:
27636225
Variant Present in the following documents:
Main text
View BVdb publication page
Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30
Variant appearance in text: rs9376173
PubMed Link:
20401335
Variant Present in the following documents:
Main text
gei-2-2009-023.pdf
View BVdb publication page