KDM5A c.1A>T ;(p.M1?)

Variant ID: 12-498257-T-A

NM_001042603.1(KDM5A):c.1A>T;(p.M1?)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


KDM5A mutations identified in autism spectrum disorder using forward genetics.

Elife
El Hayek, Lauretta L; Tuncay, Islam Oguz IO; Nijem, Nadine N; Russell, Jamie J; Ludwig, Sara S; Kaur, Kiran K; Li, Xiaohong X; Anderton, Priscilla P; Tang, Miao M; Gerard, Amanda A; Heinze, Anja A; Zacher, Pia P; Alsaif, Hessa S HS; Rad, Aboulfazl A; Hassanpour, Kazem K; Abbaszadegan, Mohammad Reza MR; Washington, Camerun C; DuPont, Barbara R BR; Louie, Raymond J RJ; , ; Couse, Madeline M; Faden, Maha M; Rogers, R Curtis RC; Abou Jamra, Rami R; Elias, Ellen R ER; Maroofian, Reza R; Houlden, Henry H; Lehman, Anna A; Beutler, Bruce B; Chahrour, Maria H MH
Publication Date: 2020-12-22

Variant appearance in text: KDM5A: 1A>T; Met1Leu
PubMed Link: 33350388
Variant Present in the following documents:
  • Main text
  • elife-56883.pdf
View BVdb publication page