SI c.1885_1886delinsAG ;(p.L629R)

Variant ID: 3-164764630-AA-CT

NM_001041.3(SI):c.1885_1886delinsAG;(p.L629R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Insights into Krabbe disease from structures of galactocerebrosidase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Deane, Janet E JE; Graham, Stephen C SC; Kim, Nee Na NN; Stein, Penelope E PE; McNair, Rosamund R; Cachón-González, M Begoña MB; Cox, Timothy M TM; Read, Randy J RJ
Publication Date: 2011-09-13

Variant appearance in text: SI: L629R
PubMed Link: 21876145
Variant Present in the following documents:
  • Main text
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