Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.R204Q
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GALT

NM_000155.4:p.R204Q

Associated Papers

Salivary gland cancer organoids are valid for preclinical genotype-oriented medical precision trials.

Ishikawa T et al.

Iscience, 2023

37207275 (PubMed )
Supplement: mmc7.xlsx › Sheet1

Molecular characterization of novel and rare DNA variants in patients with galactosemia.

Maroulis V et al.

Frontiers in Genetics, 2023

Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

Greber-Platzer S et al.

Human Mutation, 1997

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