Bibliome.ai browser hg19
ACP1 c.231+776A>G
Variant ID: 2-272926-A-G
NM_004300.3(ACP1 ):c.231+776A>G
This variant was identified in 6 publications
Variant-Specific Resource Links:
Publications:
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: rs12714402
Variant Present in the following documents:
Table_5.xlsx, sheet 1
Table_6.xlsx, sheet 1
Table_7.xlsx, sheet 1
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017
Variant appearance in text: rs12714402
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.
Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23
Variant appearance in text: rs12714402
Variant Present in the following documents:
13023_2017_647_MOESM1_ESM.xlsx, sheet 4
Shared genetic variants between serum levels of high-density lipoprotein cholesterol and wheezing in a cohort of children from Cyprus.
Italian Journal Of Pediatrics
Yiallouros, Panayiotis K PK; Kouis, Panayiotis P; Kolokotroni, Ourania O; Youhanna, Sonia S; Savva, Savvas C SC; Dima, Kleanthi K; Zerva, Aikaterini A; Platt, Danielle D; Middleton, Nicos N; Zalloua, Pierre P
Publication Date: 2016-07-13
Variant appearance in text: rs12714402
Variant Present in the following documents:
Main text
13052_2016_Article_276.pdf
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: rs12714402
Variant Present in the following documents:
mmc3.xlsx, sheet 2
mmc3.xlsx, sheet 1
mmc3.xlsx, sheet 3
Analyses of shared genetic factors between asthma and obesity in children.
The Journal Of Allergy And Clinical Immunology
Melén, Erik E; Himes, Blanca E BE; Brehm, John M JM; Boutaoui, Nadia N; Klanderman, Barbara J BJ; Sylvia, Jody S JS; Lasky-Su, Jessica J
Publication Date: 2010-09
Variant appearance in text: rs12714402
Variant Present in the following documents: