GAA c.459C>G ;(p.T153=)

Variant ID: 17-78078844-C-G

NM_000152.3(GAA):c.459C>G;(p.T153=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine
Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J
Publication Date: 2021-08

Variant appearance in text: GAA: 459C>G
PubMed Link: 34288589
Variant Present in the following documents:
  • MGG3-9-e1756.pdf
View BVdb publication page



Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine
Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J
Publication Date: 2021-08

Variant appearance in text: GAA: 459C>G
PubMed Link: 34288589
Variant Present in the following documents:
  • MGG3-9-e1756.pdf
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: N/A
PubMed Link: 33115981
Variant Present in the following documents:
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: GAA: T153T
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
View BVdb publication page



Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics
Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M
Publication Date: 2017-02-23

Variant appearance in text: N/A
PubMed Link: 28231761
Variant Present in the following documents:
View BVdb publication page



Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases
Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A
Publication Date: 2015-01

Variant appearance in text: GAA: Thr153Thr
PubMed Link: 25568942
Variant Present in the following documents:
  • pntd.0003404.s019.xlsx, sheet 1
View BVdb publication page