Varaico: Literature-Extracted Genetic Variants

Gene:PDS5B
Variant:p.R802_L803Splc
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PDS5B

NM_015032.4:p.R802_L803Splc

Associated Papers

A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions.

Christen M et al.

Journal of Veterinary Internal Medicine, 2023

36880414 (PubMed )
Supplement: JVIM-37-676-s001.xlsx › Private_homozygous_variants
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