Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.L380W
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DBT

NM_001918.5:p.L380W

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

39701103 (PubMed )
Supplement: mmc3.pdf
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