F2 c.1748A>G ;(p.Y583C)

Variant ID: 11-46760837-A-G

NM_000506.3(F2):c.1748A>G;(p.Y583C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A highly sensitive genetic protocol to detect NF1 mutations.

The Journal Of Molecular Diagnostics : Jmd
Valero, María Carmen MC; Martín, Yolanda Y; Hernández-Imaz, Elisabete E; Marina Hernández, Alba A; Meleán, Germán G; Valero, Ana María AM; Javier Rodríguez-Álvarez, Francisco F; Tellería, Dolores D; Hernández-Chico, Concepción C
Publication Date: 2011-03

Variant appearance in text: F2: 1748A>G
PubMed Link: 21354044
Variant Present in the following documents:
  • Main text
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