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ABCA4 c.66G>T ;(p.K22N)
Variant ID: 1-94586536-C-A
NM_000350.2(
ABCA4
):c.66G>T;(p.K22N)
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:
Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.
Nature Communications
Yang, Zhenlin Z; Xu, Jiachen J; Li, Lin L; Li, Renda R; Wang, Yalong Y; Tian, Yanhua Y; Guo, Wei W; Wang, Zhijie Z; Tan, Fengwei F; Ying, Jianming J; Jiao, Yuchen Y; Gao, Shugeng S; Wang, Jie J; Gao, Yibo Y; He, Jie J
Publication Date: 2020-09-28
Variant appearance in text: ABCA4: 66G>T; Lys22Asn
PubMed Link:
32985499
Variant Present in the following documents:
41467_2020_18702_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.
Molecular Vision
Salles, Mariana Vallim MV; Motta, Fabiana Louise FL; Martin, Renan R; Filippelli-Silva, Rafael R; Dias da Silva, Elton E; Varela, Patricia P; Costa, Kárita Antunes KA; Chiang, John PeiWen JP; Pesquero, João Bosco JB; Sallum, Juliana-Maria Ferraz JF
Publication Date: 2018
Variant appearance in text: ABCA4: 66G>T
PubMed Link:
30093795
Variant Present in the following documents:
Main text
mv-v24-546.pdf
View BVdb publication page