GLA c.1255A>G ;(p.N419D)

Variant ID: X-100652832-T-C

NM_000169.2(GLA):c.1255A>G;(p.N419D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

International Journal Of Neonatal Screening
Sanders, Karen A KA; Gavrilov, Dimitar K DK; Oglesbee, Devin D; Raymond, Kimiyo M KM; Tortorelli, Silvia S; Hopwood, John J JJ; Lorey, Fred F; Majumdar, Ramanath R; Kroll, Charles A CA; McDonald, Amber M AM; Lacey, Jean M JM; Turgeon, Coleman T CT; Tucker, Justin N JN; Tang, Hao H; Currier, Robert R; Isaya, Grazia G; Rinaldo, Piero P; Matern, Dietrich D
Publication Date: 2020-06

Variant appearance in text: GLA: 1255A>G; N419D
PubMed Link: 32802993
Variant Present in the following documents:
  • Main text
  • IJNS-06-00044.pdf
View BVdb publication page