NF1 c.667T>A ;(p.W223R)

Variant ID: 17-29508740-T-A

NM_001042492.2(NF1):c.667T>A;(p.W223R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Italian Journal Of Pediatrics
Santoro, Claudia C; Bernardo, Pia P; Coppola, Antonietta A; Pugliese, Umberto U; Cirillo, Mario M; Giugliano, Teresa T; Piluso, Giulio G; Cinalli, Giuseppe G; Striano, Salvatore S; Bravaccio, Carmela C; Perrotta, Silverio S
Publication Date: 2018-03-22

Variant appearance in text: NF1: 667T>A; Trp223Arg
PubMed Link: 29566708
Variant Present in the following documents:
  • Main text
  • 13052_2018_Article_477.pdf
View BVdb publication page



Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology
Kiel, Christina C; Serrano, Luis L
Publication Date: 2014-05-06

Variant appearance in text: NF1: W223R
PubMed Link: 24803665
Variant Present in the following documents:
  • MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page