Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC21
Variant:p.K34E
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DNAJC21

NM_001012339.3:p.K34E

Associated Papers

A naturally occurring canine model of syndromic congenital microphthalmia.

Murgiano L et al.

G3 (bethesda, Md.), 2024

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

Feurstein S

Frontiers in Oncology, 2023

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

Refining the phenotype associated with biallelic DNAJC21 mutations.

D'Amours G et al.

Clinical Genetics, 2018

Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.

Warren AJ

Advances in Biological Regulation, 2018

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

Dhanraj S et al.

Blood, 2017

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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."