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CASR c.78C>A ;(p.A26=)
Variant ID: 3-121973114-C-A
NM_000388.3(
CASR
):c.78C>A;(p.A26=)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Bmc Ophthalmology
Xing, Dongjun D; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Yang, Yang Y; Li, Chang C; Li, Zhiqing Z; Li, Xiaorong X
Publication Date: 2022-07-23
Variant appearance in text: N/A
PubMed Link:
35870892
Variant Present in the following documents:
View BVdb publication page
Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.
Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021
Variant appearance in text: CASR: Ala26Ala; rs77852524
PubMed Link:
33791233
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Revision of the western Palaearctic species of Aleiodes Wesmael (Hymenoptera, Braconidae, Rogadinae). Part 2: Revision of the A. apicalis group.
Zookeys
van Achterberg, Cornelis C; Shaw, Mark R MR; Quicke, Donald L J DLJ
Publication Date: 2020
Variant appearance in text: HHC: A26A
PubMed Link:
32390739
Variant Present in the following documents:
Main text
View BVdb publication page
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29
Variant appearance in text: rs77852524
PubMed Link:
30497413
Variant Present in the following documents:
12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017
Variant appearance in text: rs77852524
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.
Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015
Variant appearance in text: N/A
PubMed Link:
26496393
Variant Present in the following documents:
View BVdb publication page