Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC21
Variant:p.A328Splc
Back to variants list

DNAJC21

NM_001012339.3:p.A328Splc

Associated Papers

Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.

Feurstein S

Frontiers in Oncology, 2023

37091189 (PubMed )
Supplement: Table_1.xlsx › DNAJC21

Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis.

Chirita-Emandi A et al.

Frontiers in Genetics, 2022

DNAJ Proteins in neurodegeneration: essential and protective factors.

Zarouchlioti C et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018

Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.

Warren AJ

Advances in Biological Regulation, 2018

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

Tummala H et al.

American Journal of Human Genetics, 2016

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."