Publications:

Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.

Nucleic Acids Research

Yu, Tingting T; Zhang, Yi Y; Zheng, Wen-Qiang WQ; Wu, Siqi S; Li, Guoqiang G; Zhang, Yong Y; Li, Niu N; Yao, Ruen R; Fang, Pengfei P; Wang, Jian J; Zhou, Xiao-Long XL

Publication Date: 2022-11-11

Variant appearance in text: RET: 1084C>A; L362I

PubMed Link: 36350636

Variant Present in the following documents:

• gkac1028_supplemental_file.pdf

View BVdb publication page

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: RET: 1084C>A; Leu362Ile; rs773935854

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page