NF1 c.1693G>T ;(p.A565S)

Variant ID: 17-29548919-G-T

NM_001042492.2(NF1):c.1693G>T;(p.A565S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

Hypertension (Dallas, Tex. : 1979)
Warejko, Jillian K JK; Schueler, Markus M; Vivante, Asaf A; Tan, Weizhen W; Daga, Ankana A; Lawson, Jennifer A JA; Braun, Daniela A DA; Shril, Shirlee S; Amann, Kassaundra K; Somers, Michael J G MJG; Rodig, Nancy M NM; Baum, Michelle A MA; Daouk, Ghaleb G; Traum, Avram Z AZ; Kim, Heung Bae HB; Vakili, Khashayar K; Porras, Diego D; Lock, James J; Rivkin, Michael J MJ; Chaudry, Gulraiz G; Smoot, Leslie B LB; Singh, Michael N MN; Smith, Edward R ER; Mane, Shrikant M SM; Lifton, Richard P RP; Stein, Deborah R DR; Ferguson, Michael A MA; Hildebrandt, Friedhelm F
Publication Date: 2018-04

Variant appearance in text: NF1: 1693G>T; A565S
PubMed Link: 29483232
Variant Present in the following documents:
  • Main text
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