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.




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