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CP c.796A>G ;(p.T266A)
Variant ID: 3-148925390-T-C
NM_000096.3(
CP
):c.796A>G;(p.T266A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Oegema, Renske R; McGillivray, George G; Leventer, Richard R; Le Moing, Anne-Gaƫlle AG; Bahi-Buisson, Nadia N; Barnicoat, Angela A; Mandelstam, Simone S; Francis, David D; Francis, Fiona F; Mancini, Grazia M S GMS; Savelberg, Sanne S; van Haaften, Gijs G; Mankad, Kshitij K; Lequin, Maarten H MH
Publication Date: 2019-12
Variant appearance in text: CP: 796A>G
PubMed Link:
31710781
Variant Present in the following documents:
Main text
AJMG-181-627.pdf
View BVdb publication page
Resistance to Plum Pox Virus (PPV) in apricot (Prunus armeniaca L.) is associated with down-regulation of two MATHd genes.
Bmc Plant Biology
Zuriaga, Elena E; Romero, Carlos C; Blanca, Jose Miguel JM; Badenes, Maria Luisa ML
Publication Date: 2018-01-27
Variant appearance in text: CP: Thr266Ala
PubMed Link:
29374454
Variant Present in the following documents:
Main text
12870_2018_Article_1237.pdf
View BVdb publication page
Identification of the ABO*cis-AB04 Allele With a Unique Substitution C796A: The First Case in Korea.
Annals Of Laboratory Medicine
Yoon, Jung J; Youk, Hee Jeong HJ; Chang, Jung Hee JH; Jang, Mi Ae MA; Choi, Ji Ho JH; Nam, Myung Hyun MH; Choi, Ji Seon JS; Lim, Chae Seung CS
Publication Date: 2016-11
Variant appearance in text: CP: 796A>G
PubMed Link:
27578521
Variant Present in the following documents:
alm-36-620.pdf
View BVdb publication page