Varaico: Literature-Extracted Genetic Variants

Gene:DAP3
Variant:p.L380R
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DAP3

NM_004632.4:p.L380R

Associated Papers

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Smith TB et al.

American Journal of Human Genetics, 2025

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Smith TB et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."