Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC21
Variant:p.A328Splc
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DNAJC21

NM_001012339.3:p.A328Splc

Associated Papers

High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families.

Amaratunga SA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features.

Durmaz D et al.

Journal of Pediatric Hematology/oncology, 2024

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

Feurstein S

Frontiers in Oncology, 2023

37091189 (PubMed )
Supplement: Table_1.xlsx › DNAJC21

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

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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."