F2 c.1A>C ;(p.M1?)

Variant ID: 11-46740786-A-C

NM_000506.3(F2):c.1A>C;(p.M1?)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Loss of a highly conserved sterile alpha motif domain gene (WEEP) results in pendulous branch growth in peach trees.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hollender, Courtney A CA; Pascal, Thierry T; Tabb, Amy A; Hadiarto, Toto T; Srinivasan, Chinnathambi C; Wang, Wanpeng W; Liu, Zhongchi Z; Scorza, Ralph R; Dardick, Chris C
Publication Date: 2018-05-15

Variant appearance in text: F2: 1A>C
PubMed Link: 29712856
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.

Molecular Genetics And Metabolism Reports
Donti, Taraka R TR; Cappuccio, Gerarda G; Hubert, Leroy L; Neira, Juanita J; Atwal, Paldeep S PS; Miller, Marcus J MJ; Cardon, Aaron L AL; Sutton, V Reid VR; Porter, Brenda E BE; Baumer, Fiona M FM; Wangler, Michael F MF; Sun, Qin Q; Emrick, Lisa T LT; Elsea, Sarah H SH
Publication Date: 2016-09

Variant appearance in text: F2: Met1Val
PubMed Link: 27504266
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page