DMD c.9704G>A ;(p.G3235D)

Variant ID: X-31222181-C-T

NM_004006.2(DMD):c.9704G>A;(p.G3235D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes.

Cells
Koppolu, Agnieszka A; Maksym, Radosław B RB; Paskal, Wiktor W; Machnicki, Marcin M; Rak, Beata B; Pępek, Monika M; Garbicz, Filip F; Pełka, Kacper K; Kuśmierczyk, Zofia Z; Jacko, Joanna J; Rydzanicz, Małgorzata M; Banach-Orłowska, Magdalena M; Stokłosa, Tomasz T; Płoski, Rafał R; Malejczyk, Jacek J; Włodarski, Paweł K PK
Publication Date: 2021-03-29

Variant appearance in text: DMD: 9704G>A; Gly3235Asp
PubMed Link: 33805315
Variant Present in the following documents:
  • Main text
  • cells-10-00749.pdf
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: DMD: 9704G>A; G3235D
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: DMD: G3235D
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page