Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC21
Variant:p.W155R
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DNAJC21

NM_001012339.3:p.W155R

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

37091189 (PubMed )
Supplement: Table_1.xlsx › DNAJC21

A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.

Alsavaf MB et al.

British Journal of Haematology, 2022

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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."