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TMEM107 c.256+310A>G
Variant ID: 17-8078765-T-C
NM_183065.2(
TMEM107
):c.256+310A>G
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The genetic and pharmacogenomic landscape of snoRNAs in human cancer.
Molecular Cancer
Liu, Yaoming Y; Ruan, Hang H; Li, Shengli S; Ye, Youqiong Y; Hong, Wei W; Gong, Jing J; Zhang, Zhao Z; Jing, Ying Y; Zhang, Xiulan X; Diao, Lixia L; Han, Leng L
Publication Date: 2020-06-23
Variant appearance in text: rs8069739
PubMed Link:
32576192
Variant Present in the following documents:
Main text
12943_2020_Article_1228.pdf
View BVdb publication page
Multi-omics integrative analysis identified SNP-methylation-mRNA: Interaction in peripheral blood mononuclear cells.
Journal Of Cellular And Molecular Medicine
Lu, Yi-Hua YH; Wang, Bing-Hua BH; Jiang, Fei F; Mo, Xing-Bo XB; Wu, Long-Fei LF; He, Pei P; Lu, Xin X; Deng, Fei-Yan FY; Lei, Shu-Feng SF
Publication Date: 2019-07
Variant appearance in text: rs8069739
PubMed Link:
31106970
Variant Present in the following documents:
Main text
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: rs8069739
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
Table_6.xlsx, sheet 1
View BVdb publication page
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: rs8069739
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page