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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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