Publications:

Immune dysregulation caused by homozygous mutations in CBLB.

The Journal Of Clinical Investigation

Janssen, Erin E; Peters, Zachary Z; Alosaimi, Mohammed F MF; Smith, Emma E; Milin, Elena E; Stafstrom, Kelsey K; Wallace, Jacqueline G JG; Platt, Craig D CD; Chou, Janet J; El Ansari, Yasmeen S YS; Al Farsi, Tariq T; Ameziane, Najim N; Al-Ali, Ruslan R; Calvo, Maria M; Rocha, Maria Eugenia ME; Bauer, Peter P; Al-Sannaa, Nouriya Abbas NA; Al Sukaiti, Nashat Faud NF; Alangari, Abdullah A AA; Bertoli-Avella, Aida M AM; Geha, Raif S RS

Publication Date: 2022-10-17

Variant appearance in text: rs535219619

PubMed Link: 36006710

Variant Present in the following documents:

• jci-132-154487-s100.pdf

View BVdb publication page

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer

Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,

Publication Date: 2019-05-15

Variant appearance in text: CBLB: 1402C>G; Arg468Gly

PubMed Link: 30414346

Variant Present in the following documents:

• Main text
• IJC-144-2453.pdf

View BVdb publication page