Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.H186Q
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GALT

NM_000155.4:p.H186Q

Associated Papers

A case report of classic galactosemia with a GALT gene variant and a literature review.

Wang YC et al.

Bmc Pediatrics, 2024

Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.

Huang Z et al.

Kidney International Reports, 2023

38025242 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Genetic background and clinical characteristics of infantile hyperammonemia.

Li M et al.

Translational Pediatrics, 2023

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