Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.L632_L634delFs
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GALC

NM_000153.4:p.L632_L634delFs

Associated Papers

Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.

Palao B et al.

Frontiers in Genetics, 2025

41659036 (PubMed )
Supplement: DataSheet1.pdf

Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.

Gingras MC et al.

Life Science Alliance, 2021

34301805 (PubMed )
Supplement: LSA-2020-00941_TableS3.xlsx › Table_S3

Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.

Tanner AK et al.

Orphanet Journal of Rare Diseases, 2012

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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."