ABCA1 c.4367del ;(p.M1456Sfs*45)

Variant ID: 9-107568619-CA-C

NM_005502.3(ABCA1):c.4367del;(p.M1456Sfs*45)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.

Journal Of Inherited Metabolic Disease
Colaco, Alexandria A; Kaya, Ecem E; Adriaenssens, Elias E; Davis, Lianne C LC; Zampieri, Stefania S; Fernández-Suárez, María E ME; Tan, Chong Y CY; Deegan, Patrick B PB; Porter, Forbes D FD; Galione, Antony A; Bembi, Bruno B; Dardis, Andrea A; Platt, Frances M FM
Publication Date: 2020-05

Variant appearance in text: ABCA1: 4367delT
PubMed Link: 31707734
Variant Present in the following documents:
  • Main text
  • JIMD-43-574.pdf
View BVdb publication page