SCN5A c.34_35delinsGC ;(p.S12A)

Variant ID: 3-38674764-CT-GC

NM_000335.4(SCN5A):c.34_35delinsGC;(p.S12A)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Study of a Local Structure at the Interface between Corrosion Films and Carbon Steel Surface in Undersaturated CO2 Environments.

Acs Omega
Matamoros-Veloza, Adriana A; Stawski, Tomasz M TM; Vargas, Silvia S; Neville, Anne A
Publication Date: 2023-03-07

Variant appearance in text: ICCD: S12a
PubMed Link: 36910951
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.

Genome Research
Zheng, Honglan H; Yan, Xinhao X; Li, Guanluan G; Lin, Hengwei H; Deng, Siqi S; Zhuang, Wenhui W; Yao, Fuqiang F; Lu, Yu Y; Xia, Xin X; Yuan, Huijun H; Jin, Li L; Yan, Zhiqiang Z
Publication Date: 2022-06-27

Variant appearance in text: SCN5A: S12A
PubMed Link: 35760561
Variant Present in the following documents:
  • Main text
  • 1573.pdf
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Characterizing mobile element insertions in 5675 genomes.

Nucleic Acids Research
Niu, Yiwei Y; Teng, Xueyi X; Zhou, Honghong H; Shi, Yirong Y; Li, Yanyan Y; Tang, Yiheng Y; Zhang, Peng P; Luo, Huaxia H; Kang, Quan Q; Xu, Tao T; He, Shunmin S
Publication Date: 2022-03-21

Variant appearance in text: SCN5A: S12A
PubMed Link: 35212372
Variant Present in the following documents:
  • gkac128.pdf
View BVdb publication page



Conductive single-wall carbon nanotubes/extracellular matrix hybrid hydrogels promote the lineage-specific development of seeding cells for tissue repair through reconstructing an integrin-dependent niche.

Journal Of Nanobiotechnology
Bai, Rui R; Liu, Jianfeng J; Zhang, Jiao J; Shi, Jinmiao J; Jin, Zhigeng Z; Li, Yi Y; Ding, Xiaoyu X; Zhu, Xiaoming X; Yuan, Chao C; Xiu, Bingshui B; Liu, Huiliang H; Yuan, Zengqiang Z; Liu, Zhiqiang Z
Publication Date: 2021-08-23

Variant appearance in text: HH1: S12a
PubMed Link: 34425841
Variant Present in the following documents:
  • Main text
  • 12951_2021_Article_993.pdf
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Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Dastidar, Sumitava S; Majumdar, Debanjana D; Tipanee, Jaitip J; Singh, Kshitiz K; Klein, Arnaud F AF; Furling, Denis D; Chuah, Marinee K MK; VandenDriessche, Thierry T
Publication Date: 2022-01-05

Variant appearance in text: SCN5A: S12A
PubMed Link: 34371182
Variant Present in the following documents:
  • mmc16.pdf
  • main.pdf
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Coherent Electron Transport across a 3 nm Bioelectronic Junction Made of Multi-Heme Proteins.

The Journal Of Physical Chemistry Letters
Futera, Zdenek Z; Ide, Ichiro I; Kayser, Ben B; Garg, Kavita K; Jiang, Xiuyun X; van Wonderen, Jessica H JH; Butt, Julea N JN; Ishii, Hisao H; Pecht, Israel I; Sheves, Mordechai M; Cahen, David D; Blumberger, Jochen J
Publication Date: 2020-11-19

Variant appearance in text: HB2: S12a
PubMed Link: 33142062
Variant Present in the following documents:
  • jz0c02686_si_001.pdf
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Tumor-derived neomorphic mutations in ASXL1 impairs the BAP1-ASXL1-FOXK1/K2 transcription network.

Protein & Cell
Xia, Yu-Kun YK; Zeng, Yi-Rong YR; Zhang, Meng-Li ML; Liu, Peng P; Liu, Fang F; Zhang, Hao H; He, Chen-Xi CX; Sun, Yi-Ping YP; Zhang, Jin-Ye JY; Zhang, Cheng C; Song, Lei L; Ding, Chen C; Tang, Yu-Jie YJ; Yang, Zhen Z; Yang, Chen C; Wang, Pu P; Guan, Kun-Liang KL; Xiong, Yue Y; Ye, Dan D
Publication Date: 2021-07

Variant appearance in text: HB1: S12A
PubMed Link: 32683582
Variant Present in the following documents:
  • Main text
  • 13238_2020_Article_754.pdf
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Manipulating molecules with strong coupling: harvesting triplet excitons in organic exciton microcavities.

Chemical Science
Polak, Daniel D; Jayaprakash, Rahul R; Lyons, Thomas P TP; Martínez-Martínez, Luis Á LÁ; Leventis, Anastasia A; Fallon, Kealan J KJ; Coulthard, Harriet H; Bossanyi, David G DG; Georgiou, Kyriacos K; Petty Ii, Anthony J AJ; Anthony, John J; Bronstein, Hugo H; Yuen-Zhou, Joel J; Tartakovskii, Alexander I AI; Clark, Jenny J; Musser, Andrew J AJ
Publication Date: 2020-01-14

Variant appearance in text: ICCD: S12a
PubMed Link: 32190258
Variant Present in the following documents:
  • SC-011-C9SC04950A-s002.pdf
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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: SCN5A: S12A
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
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Control of Hox transcription factor concentration and cell-to-cell variability by an auto-regulatory switch.

Development (Cambridge, England)
Papadopoulos, Dimitrios K DK; Skouloudaki, Kassiani K; Engström, Ylva Y; Terenius, Lars L; Rigler, Rudolf R; Zechner, Christoph C; Vukojević, Vladana V; Tomancak, Pavel P
Publication Date: 2019-01-25

Variant appearance in text: HB1: S12A
PubMed Link: 30642837
Variant Present in the following documents:
  • develop-146-168179-s1.pdf
View BVdb publication page