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PC c.451G>T ;(p.D151Y)
Variant ID: 11-66638822-C-A
NM_001040716.1(
PC
):c.451G>T;(p.D151Y)
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:
Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals.
Plos Genetics
Zhao, Boxun B; Wu, Qixi Q; Ye, Adam Yongxin AY; Guo, Jing J; Zheng, Xianing X; Yang, Xiaoxu X; Yan, Linlin L; Liu, Qing-Rong QR; Hyde, Thomas M TM; Wei, Liping L; Huang, August Yue AY
Publication Date: 2019-04
Variant appearance in text: PC: 451G>T; D151Y
PubMed Link:
30973874
Variant Present in the following documents:
pgen.1008043.pdf
View BVdb publication page
Transcriptome level analysis in Rett syndrome using human samples from different tissues.
Orphanet Journal Of Rare Diseases
Shovlin, Stephen S; Tropea, Daniela D
Publication Date: 2018-07-11
Variant appearance in text: PC: D151Y
PubMed Link:
29996871
Variant Present in the following documents:
Main text
13023_2018_Article_857.pdf
View BVdb publication page