Causal variants for rare genetic diseases are often rare in the general population. Rare
variants may also contribute to common complex traits and can have much larger per-allele …

Acquiring a sufficiently powered cohort of control samples matched to a case sample can be
time-consuming or, in some cases, impossible. Accordingly, an ability to leverage genetic …

Identification of TCF3 germline variants in pediatric B-cell acute lymphoblastic leukemia | Blood
Advances | American Society of Hematology Skip to Main Content Advertisement Umbrella Alt …

The genetics of β-cell function (BCF) offer valuable insights into the aetiology of type 2
diabetes (T2D),. Previous studies have expanded the catalogue of BCF genetic associations …

Biallelic mutation in the DNA-damage repair gene NBN is the genetic cause of Nijmegen
breakage syndrome, which is associated with predisposition to lymphoid malignancies …

Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the
most common repeat expansion-mediated disease in humans characterised to date. Up to …

Replication Protein A (RPA) is single-strand DNA binding protein that plays a key role in the
replication and repair of DNA. RPA is a heterotrimer made of 3 subunits–RPA1, RPA2, and …

Background Lysosomes are closely linked to autophagic activity, which plays a vital role in
pancreatic ductal adenocarcinoma (PDAC) biology. The survival of PDAC patients is still …

Background and purpose Parkinson disease (PD) is a complex and heterogeneous
neurodegenerative disorder with a broad spectrum of clinical manifestations, determined by …

OPEN ACCESS EDITED BY Page 96 frontiers TYPE Brief Research Report Frontiers in Oncology
PUBLISHED 06 October 2023 DOI 10.3389/fonc. 2023.1229507 Check for updates OPEN …