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PC c.1178G>T ;(p.R393L)
Variant ID: 11-66633665-C-A
NM_001040716.1(
PC
):c.1178G>T;(p.R393L)
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:
Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.
Frontiers In Genetics
Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X
Publication Date: 2022
Variant appearance in text: rs752021062
PubMed Link:
36386804
Variant Present in the following documents:
Table1.xls, sheet 4
View BVdb publication page
Fluorescence resonance energy transfer analysis of recombination signal sequence configuration in the RAG1/2 synaptic complex.
Molecular And Cellular Biology
Ciubotaru, Mihai M; Kriatchko, Aleksei N AN; Swanson, Patrick C PC; Bright, Frank V FV; Schatz, David G DG
Publication Date: 2007-07
Variant appearance in text: PC: R393L
PubMed Link:
17470556
Variant Present in the following documents:
Main text
View BVdb publication page