Homo sapiens galactose-1-phosphate uridyl transferase (GALT) mutant Q5 - Nucleotide

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Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review. [Int J Mol Sci. 2023]
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, et al. Int J Mol Sci. 2023 Dec 12; 24(24). Epub 2023 Dec 12.
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States. [Mol Genet Metab. 2023]
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
Stettner NM, Cutler DJ, Fridovich-Keil JL. Mol Genet Metab. 2023 Apr; 138(4):107542. Epub 2023 Feb 21.
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT. [J Inherit Metab Dis. 2022]
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, et al. J Inherit Metab Dis. 2022 Nov; 45(6):1106-1117. Epub 2022 Sep 26.

Homo sapiens galactose-1-phosphate uridyl transferase (GALT) mutant Q54X gene, e...
Homo sapiens galactose-1-phosphate uridyl transferase (GALT) mutant Q54X gene, exons 1 and 2 (M96246 bases 303-924)
gi|1066752|gb|L48714.1|HUMGALT54X

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Nucleotide