NF1 c.62T>C ;(p.L21P)

Variant ID: 17-29483002-T-C

NM_001042492.2(NF1):c.62T>C;(p.L21P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: NF1: 62T>C
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 9
View BVdb publication page



Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Genes
Stella, Alessandro A; Lastella, Patrizia P; Loconte, Daria Carmela DC; Bukvic, Nenad N; Varvara, Dora D; Patruno, Margherita M; Bagnulo, Rosanna R; Lovaglio, Rosaura R; Bartolomeo, Nicola N; Serio, Gabriella G; Resta, Nicoletta N
Publication Date: 2018-04-17

Variant appearance in text: NF1: 62T>C
PubMed Link: 29673180
Variant Present in the following documents:
  • Main text
  • genes-09-00216.pdf
View BVdb publication page