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CP c.599G>A ;(p.C200Y)
Variant ID: 3-148927962-C-T
NM_000096.3(
CP
):c.599G>A;(p.C200Y)
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:
Recognition of maturity-onset diabetes of the young in China.
Journal Of Diabetes Investigation
Liang, Hua H; Zhang, Yanan Y; Li, Maixinyue M; Yan, Jinhua J; Yang, Daizhi D; Luo, Sihui S; Zheng, Xueying X; Yang, Guoqing G; Li, Zhuo Z; Xu, Wen W; Groop, Leif L; Weng, Jianping J
Publication Date: 2021-04
Variant appearance in text: CP: 599G>A
PubMed Link:
32741144
Variant Present in the following documents:
JDI-12-501.pdf
View BVdb publication page
Conformational effects of Lys191 in the human GnRH receptor: mutagenesis and molecular dynamics simulations studies.
The Journal Of Endocrinology
Jardón-Valadez, Eduardo E; Aguilar-Rojas, Arturo A; Maya-Núñez, Guadalupe G; Leaños-Miranda, Alfredo A; Piñeiro, Angel A; Conn, P Michael PM; Ulloa-Aguirre, Alfredo A
Publication Date: 2009-05
Variant appearance in text: CP: Cys200Tyr
PubMed Link:
19246515
Variant Present in the following documents:
Main text
View BVdb publication page