Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.N39S
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GALK1

NM_000154.2:p.N39S

Associated Papers

Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.

Schulpis KH et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017

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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."