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DMD c.6117+3733G>A
Variant ID: X-32324466-C-T
NM_004006.2(
DMD
):c.6117+3733G>A
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:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs331318
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
BEXCIS: Bayesian methods for estimating the degree of the skewness of X chromosome inactivation.
Bmc Bioinformatics
Yu, Wen-Yi WY; Zhang, Yu Y; Li, Meng-Kai MK; Yang, Zi-Ying ZY; Fung, Wing Kam WK; Zhao, Pei-Zhen PZ; Zhou, Ji-Yuan JY
Publication Date: 2022-05-24
Variant appearance in text: rs331318
PubMed Link:
35610583
Variant Present in the following documents:
Main text
12859_2022_Article_4721.pdf
View BVdb publication page