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OTC c.998_999inv ;(p.T333M)
Variant ID: X-38271245-CA-TG
NM_000531.5(
OTC
):c.998_999inv;(p.T333M)
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:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: OTC: T333M
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.
Bmc Genomics
Jang, Hyeon-Min HM; Erf, Gisela F GF; Rowland, Kaylee C KC; Kong, Byung-Whi BW
Publication Date: 2014-08-23
Variant appearance in text: OTC: T333M
PubMed Link:
25151476
Variant Present in the following documents:
Main text
12864_2013_Article_6386.pdf
View BVdb publication page