DYSF c.3051G>T ;(p.W1017C)

Variant ID: 2-71797430-G-T

NM_001130987.1(DYSF):c.3051G>T;(p.W1017C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DYSF: 3051G>T; Trp1017Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.

Genes
Park, Joonhong J; Moon, Young Jae YJ; Kim, Dal Sik DS
Publication Date: 2023-01-12

Variant appearance in text: rs28937581
PubMed Link: 36672942
Variant Present in the following documents:
  • genes-14-00200.pdf
View BVdb publication page



The Role of Autophagy in Skeletal Muscle Diseases.

Frontiers In Physiology
Xia, Qianghua Q; Huang, Xubo X; Huang, Jieru J; Zheng, Yongfeng Y; March, Michael E ME; Li, Jin J; Wei, Yongjie Y
Publication Date: 2021

Variant appearance in text: rs28937581
PubMed Link: 33841177
Variant Present in the following documents:
  • Main text
  • fphys-12-638983.pdf
View BVdb publication page



Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report.

Medicine
Lee, Sook Joung SJ; Choi, Eunseok E; Shin, Soyoung S; Park, Joonhong J
Publication Date: 2020-07-10

Variant appearance in text: rs28937581
PubMed Link: 32664072
Variant Present in the following documents:
  • Main text
  • medi-99-e20810.pdf
View BVdb publication page



Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.

Neurology. Genetics
Izumi, Rumiko R; Niihori, Tetsuya T; Takahashi, Toshiaki T; Suzuki, Naoki N; Tateyama, Maki M; Watanabe, Chigusa C; Sugie, Kazuma K; Nakanishi, Hirotaka H; Sobue, Gen G; Kato, Masaaki M; Warita, Hitoshi H; Aoki, Yoko Y; Aoki, Masashi M
Publication Date: 2015-12

Variant appearance in text: rs28937581
PubMed Link: 27066573
Variant Present in the following documents:
  • NG2015001057.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs28937581
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page