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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALK1

Variant:p.Q369_E370Splc

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GALK1

NM_000154.2:p.Q369_E370Splc

hg38:chr17:75758151 A>C

Associated Papers

A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice.

Ozler O et al.

Clinical Pediatrics, 2023

36411586 (PubMed )

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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."