Publications:

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CGD: A129T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Blood Cells, Molecules & Diseases

Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Bustamante, Jacinta J; Kannengiesser, Caroline C; de Boer, Martin M; van Leeuwen, Karin K; Köker, M Yavuz MY; Wolach, Baruch B; Roesler, Joachim J; Malech, Harry L HL; Holland, Steven M SM; Gallin, John I JI; Stasia, Marie-José MJ

Publication Date: 2010-04-15

Variant appearance in text: CGD: 385G>A

PubMed Link: 20167518

Variant Present in the following documents:

• Main text

View BVdb publication page