Publications:

National experience with adenosine deaminase deficiency related SCID in Polish children.

Frontiers In Immunology

Dąbrowska-Leonik, Nel N; Piątosa, Barbara B; Słomińska, Ewa E; Bohynikova, Nadezda N; Bernat-Sitarz, Katarzyna K; Bernatowska, Ewa E; Wolska-Kuśnierz, Beata B; Kałwak, Krzysztof K; Kołtan, Sylwia S; Dąbrowska, Anna A; Goździk, Jolanta J; Ussowicz, Marek M; Pac, Małgorzata M

Publication Date: 2022

Variant appearance in text: CD4: Gly216Arg

PubMed Link: 36685585

Variant Present in the following documents:

• fimmu-13-1058623.pdf

View BVdb publication page

Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.

Frontiers In Immunology

Mantravadi, Vasudha V; Bednarski, Jeffrey J JJ; Ritter, Michelle A MA; Gu, Hongjie H; Kolicheski, Ana L AL; Horner, Caroline C; Cooper, Megan A MA; Kitcharoensakkul, Maleewan M

Publication Date: 2021

Variant appearance in text: CD4: 646G>A; Gly216Arg

PubMed Link: 34539671

Variant Present in the following documents:

• fimmu-12-734096.pdf

View BVdb publication page

The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: CD4: 646G>A; G216R

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page