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ABCA4 c.950G>A ;(p.G317D)
Variant ID: 1-94546183-C-T
NM_000350.2(
ABCA4
):c.950G>A;(p.G317D)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma.
Genome Medicine
Tang, Jie J; Tu, Kailing K; Lu, Keying K; Zhang, Jiaxun J; Luo, Kai K; Jin, Haoxuan H; Wang, Lei L; Yang, Lie L; Xiao, Weiran W; Zhang, Qilin Q; Liu, Xiaoling X; Ge, Xin Yi XY; Li, Guibo G; Zhou, Zongguang Z; Xie, Dan D
Publication Date: 2021-09-10
Variant appearance in text: ABCA4: G317D
PubMed Link:
34507604
Variant Present in the following documents:
13073_2021_962_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page
Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.
Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07
Variant appearance in text: ABCA4: 950G>A
PubMed Link:
32639949
Variant Present in the following documents:
aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page