Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB11
Variant:p.K284_V285Splc
Back to variants list

DNAJB11

NM_016306.6:p.K284_V285Splc

Associated Papers

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Frank MSB et al.

Human Genomics, 2025

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Byrne AB et al.

Nature Medicine, 2023

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."