Bibliome.ai browser hg19
Search
About
Stats
FAQ
PROK2 c.63G>C ;(p.T21=)
Variant ID: 3-71834141-C-G
NM_001126128.1(
PROK2
):c.63G>C;(p.T21=)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
Plos One
PatiƱo, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014
Variant appearance in text: PROK2: T21T
PubMed Link:
25333361
Variant Present in the following documents:
pone.0109576.s001.xls, sheet 3
View BVdb publication page