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HR c.2270C>T ;(p.S757F)
Variant ID: 8-21978675-G-A
NM_005144.4(
HR
):c.2270C>T;(p.S757F)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation.
The Pharmacogenomics Journal
Uppugunduri, C R S CRS; Huezo-Diaz Curtis, P P; Nava, T T; Rezgui, M A MA; Mlakar, V V; Mlakar, S Jurkovic SJ; Waespe, N N; Théoret, Y Y; Gumy-Pause, F F; Bernard, F F; Chalandon, Y Y; Boelens, J J JJ; Bredius, R G M RGM; Dalle, J H JH; Nath, C C; Corbacioglu, S S; Peters, C C; Bader, P P; Shaw, P P; Bittencourt, H H; Krajinovic, M M; Ansari, M M
Publication Date: 2022-02
Variant appearance in text: HR: 2270C>T
PubMed Link:
34711928
Variant Present in the following documents:
Main text
41397_2021_Article_251.pdf
View BVdb publication page