DMD c.130C>T ;(p.L44=)

Variant ID: X-32867901-G-A

NM_004006.2(DMD):c.130C>T;(p.L44=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: DMD: 130C>T; R44W
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



A Promising Future for Stem-Cell-Based Therapies in Muscular Dystrophies-In Vitro and In Vivo Treatments to Boost Cellular Engraftment.

International Journal Of Molecular Sciences
Gois Beghini, Daniela D; Iwao Horita, Samuel S; Monteiro da Fonseca Cardoso, Liana L; Anastacio Alves, Luiz L; Nagaraju, Kanneboyina K; Henriques-Pons, Andrea A
Publication Date: 2019-10-31

Variant appearance in text: DMD: 130C>T
PubMed Link: 31683627
Variant Present in the following documents:
  • Main text
  • ijms-20-05433.pdf
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: DMD: L44L
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
View BVdb publication page