NSF c.1273_1275delinsTGG ;(p.D425W)

Variant ID: 17-44771927-GAC-TGG

NM_006178.3(NSF):c.1273_1275delinsTGG;(p.D425W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutagenesis of a specificity-determining residue in tyrosine hydroxylase establishes that the enzyme is a robust phenylalanine hydroxylase but a fragile tyrosine hydroxylase.

Biochemistry
Daubner, S Colette SC; Avila, Audrey A; Bailey, Johnathan O JO; Barrera, Dimitrios D; Bermudez, Jaclyn Y JY; Giles, David H DH; Khan, Crystal A CA; Shaheen, Noel N; Thompson, Janie Womac JW; Vasquez, Jessica J; Oxley, Susan P SP; Fitzpatrick, Paul F PF
Publication Date: 2013-02-26

Variant appearance in text: NSF: D425W
PubMed Link: 23368961
Variant Present in the following documents:
  • Main text
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