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.




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