Publications:

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.

Plos One

Hwang, Cheol-Sang CS; Sukalo, Maja M; Batygin, Olga O; Addor, Marie-Claude MC; Brunner, Han H; Aytes, Antonio Perez AP; Mayerle, Julia J; Song, Hyun Kyu HK; Varshavsky, Alexander A; Zenker, Martin M

Publication Date: 2011

Variant appearance in text: NAT1: V146L

PubMed Link: 21931868

Variant Present in the following documents:

• pone.0024925.pdf

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