Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB13
Variant:p.M278R
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DNAJB13

NM_153614.4:p.M278R

Associated Papers

Wide Spectrum of Disease Manifestations in Siblings With Primary Ciliary Dyskinesia Carrying DNAJB13 Mutations: A Case Study.

Suryadinata R et al.

Journal of Paediatrics and Child Health, 2025

Multi-scale structures of the mammalian radial spoke and divergence of axonemal complexes in ependymal cilia.

Meng X et al.

Nature Communications, 2024

38191553 (PubMed )
Supplement: 41467_2023_44577_MOESM1_ESM.pdf

Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia.

Li WN et al.

Andrology, 2020

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

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

El Khouri E et al.

American Journal of Human Genetics, 2016

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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."