HMSD c.72+5G>C

Variant ID: 18-61620766-G-C

NM_001123366.1(HMSD):c.72+5G>C

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs9945924
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Shared graft-vs-leukemia minor histocompatibility antigens in DISCOVeRY-BMT.

Blood Advances
Olsen, Kelly Shea KS; Jadi, Othmane O; Dexheimer, Sarah S; Bortone, Dante S DS; Vensko, Steven P SP; Bennett, Sarah Nicole SN; Tang, Hancong H; Diiorio, Marisa M; Saran, Tanvi T; Dingfelder, David D; Zhu, Qianqian Q; Wang, Yiwen Y; Haiman, Christopher A CA; Pooler, Loreall L; Sheng, Xin X; Webb, Amy A; Pasquini, Marcelo C MC; McCarthy, Philip L PL; Spellman, Stephen R SR; Weimer, Eric T ET; Hahn, Theresa T; Sucheston-Campbell, Lara E LE; Armistead, Paul M PM; Vincent, Benjamin B
Publication Date: 2022-12-07

Variant appearance in text: rs9945924
PubMed Link: 36477467
Variant Present in the following documents:
  • BLOODA_ADV-2022-008863-mmc1.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs9945924
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Minor Histocompatibility Antigen-Specific T Cells.

Frontiers In Pediatrics
Summers, Corinne C; Sheth, Vipul S VS; Bleakley, Marie M
Publication Date: 2020

Variant appearance in text: rs9945924
PubMed Link: 32582592
Variant Present in the following documents:
  • Main text
  • fped-08-00284.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs9945924
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Single step multiple genotyping by MALDI-TOF mass spectrometry, for evaluation of minor histocompatibility antigens in patients submitted to allogeneic stem cell transplantation from HLA-matched related and unrelated donor.

Hematology Reports
Cattina, Federica F; Bernardi, Simona S; Mantovani, Vilma V; Toffoletti, Eleonora E; Santoro, Alessandra A; Pastore, Domenico D; Martino, Bruno B; Console, Giuseppe G; Martinelli, Giovanni G; Malagola, Michele M
Publication Date: 2017-09-26

Variant appearance in text: rs9945924
PubMed Link: 29071050
Variant Present in the following documents:
  • Main text
  • hr-9-3-7051.pdf
View BVdb publication page



The Value of Online Algorithms to Predict T-Cell Ligands Created by Genetic Variants.

Plos One
van der Lee, Dyantha I DI; Pont, Margot J MJ; Falkenburg, J H Frederik JH; Griffioen, Marieke M
Publication Date: 2016

Variant appearance in text: rs9945924
PubMed Link: 27618304
Variant Present in the following documents:
  • Main text
  • pone.0162808.pdf
View BVdb publication page



Autosomal Minor Histocompatibility Antigens: How Genetic Variants Create Diversity in Immune Targets.

Frontiers In Immunology
Griffioen, Marieke M; van Bergen, Cornelis A M CA; Falkenburg, J H Frederik JH
Publication Date: 2016

Variant appearance in text: rs9945924
PubMed Link: 27014279
Variant Present in the following documents:
  • Main text
  • fimmu-07-00100.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs9945924
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.

Plos One
Greger, Liliana L; Su, Jing J; Rung, Johan J; Ferreira, Pedro G PG; , ; Lappalainen, Tuuli T; Dermitzakis, Emmanouil T ET; Brazma, Alvis A
Publication Date: 2014

Variant appearance in text: rs9945924
PubMed Link: 25133550
Variant Present in the following documents:
  • Main text
  • pone.0104567.s001.pdf
  • pone.0104567.pdf
View BVdb publication page



Genetic variation of pre-mRNA alternative splicing in human populations.

Wiley Interdisciplinary Reviews. Rna
Lu, Zhi-Xiang ZX; Jiang, Peng P; Xing, Yi Y
Publication Date: 2012

Variant appearance in text: rs9945924
PubMed Link: 22095823
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exploiting T cells specific for human minor histocompatibility antigens for therapy of leukemia.

Immunology And Cell Biology
Bleakley, Marie M; Riddell, Stanley R SR
Publication Date: 2011-03

Variant appearance in text: rs9945924
PubMed Link: 21301477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Context-dependent robustness to 5' splice site polymorphisms in human populations.

Human Molecular Genetics
Lu, Zhi-xiang ZX; Jiang, Peng P; Cai, James J JJ; Xing, Yi Y
Publication Date: 2011-03-15

Variant appearance in text: rs9945924
PubMed Link: 21224255
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toward targeting B cell cancers with CD4+ CTLs: identification of a CD19-encoded minor histocompatibility antigen using a novel genome-wide analysis.

The Journal Of Experimental Medicine
Spaapen, Robbert M RM; Lokhorst, Henk M HM; van den Oudenalder, Kelly K; Otterud, Brith E BE; Dolstra, Harry H; Leppert, Mark F MF; Minnema, Monique C MC; Bloem, Andries C AC; Mutis, Tuna T
Publication Date: 2008-11-24

Variant appearance in text: rs9945924
PubMed Link: 19001137
Variant Present in the following documents:
  • Main text
  • jem2052863.pdf
View BVdb publication page