Publications:

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Scientific Reports

Rawat, Amit A; Sharma, Madhubala M; Vignesh, Pandiarajan P; Jindal, Ankur Kumar AK; Suri, Deepti D; Das, Jhumki J; Joshi, Vibhu V; Tyagi, Rahul R; Sharma, Jyoti J; Kaur, Gurjit G; Lau, Yu-Lung YL; Imai, Kohsuke K; Nonoyama, Shigeaki S; Lenardo, Michael M; Singh, Surjit S

Publication Date: 2022-06-21

Variant appearance in text: CYBB: Trp443*

PubMed Link: 35729272

Variant Present in the following documents:

• Main text
• 41598_2022_Article_14522.pdf

View BVdb publication page

Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases

Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI

Publication Date: 2010-10-15

Variant appearance in text: CGD: 1329G>A

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

View BVdb publication page