Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.D1053fs
Back to variants list

LRBA

NM_001364905.1:p.D1053fs

Associated Papers

FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.

Wyatt RC et al.

Journal of Clinical Immunology, 2023

36600150 (PubMed )
Supplement: 10875_2022_1428_MOESM1_ESM.docx

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Şıklar Z et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2018

Multiple Presentations of LRBA Deficiency: a Single-Center Experience.

Kostel Bal S et al.

Journal of Clinical Immunology, 2017

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.

Johnson MB et al.

Diabetes, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."