Publications:

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: TTN: 1012G>A

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Molecular Therapy. Nucleic Acids

Song, Libin L; Qi, Simin S; Hu, Wei W; Fang, Zhixiao Z; Yu, Dehua D; Liu, Teng T; Wu, Jingni J; Wu, Yangjun Y; Wu, Aiwei A; Feng, Lanyun L; Xie, Jing J; Zhang, Bo B; He, Wenguang W; Ning, Zhouyu Z; Liu, Luming L; Qin, Jiang-Jiang JJ; Li, Shengli S

Publication Date: 2021-12-03

Variant appearance in text: TTN: 1012G>A; G338S

PubMed Link: 34513290

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

The genomic landscapes of individual melanocytes from human skin.

Nature

Tang, Jessica J; Fewings, Eleanor E; Chang, Darwin D; Zeng, Hanlin H; Liu, Shanshan S; Jorapur, Aparna A; Belote, Rachel L RL; McNeal, Andrew S AS; Tan, Tuyet M TM; Yeh, Iwei I; Arron, Sarah T ST; Judson-Torres, Robert L RL; Bastian, Boris C BC; Shain, A Hunter AH

Publication Date: 2020-10

Variant appearance in text: TTN: G338S

PubMed Link: 33029006

Variant Present in the following documents:

• NIHMS1626314-supplement-1626314_SuppTable3.xlsx, sheet 1

View BVdb publication page

Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Scientific Reports

Tobita, Takashige T; Nomura, Seitaro S; Fujita, Takanori T; Morita, Hiroyuki H; Asano, Yoshihiro Y; Onoue, Kenji K; Ito, Masamichi M; Imai, Yasushi Y; Suzuki, Atsushi A; Ko, Toshiyuki T; Satoh, Masahiro M; Fujita, Kanna K; Naito, Atsuhiko T AT; Furutani, Yoshiyuki Y; Toko, Haruhiro H; Harada, Mutsuo M; Amiya, Eisuke E; Hatano, Masaru M; Takimoto, Eiki E; Shiga, Tsuyoshi T; Nakanishi, Toshio T; Sakata, Yasushi Y; Ono, Minoru M; Saito, Yoshihiko Y; Takashima, Seiji S; Hagiwara, Nobuhisa N; Aburatani, Hiroyuki H; Komuro, Issei I

Publication Date: 2018-01-31

Variant appearance in text: TTN: 1012G>A

PubMed Link: 29386531

Variant Present in the following documents:

• 41598_2018_20114_MOESM1_ESM.pdf

View BVdb publication page

Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption.

American Journal Of Physiology. Cell Physiology

Shin, Daniel Sanghoon DS; Zhao, Rongbao R; Fiser, Andras A; Goldman, David I DI

Publication Date: 2012-10-15

Variant appearance in text: TMD: G338S

PubMed Link: 22843796

Variant Present in the following documents:

• Main text

View BVdb publication page