Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.S307*
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GALT

NM_000155.4:p.S307*

Associated Papers

Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.

Singh R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

A case of classical galactosemia: identification and characterization of 3 distinct mutations in galactose-1-phosphate uridyl transferase (GALT) gene in a single family.

Singh R et al.

Indian Journal of Pediatrics, 2011

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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."