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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLS

Variant:p.K245_V246Splc

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GLS

NM_014905.5:p.K245_V246Splc

hg38:chr2:190901541 A>G

Associated Papers

Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.

Chi CS et al.

Archives of Disease in Childhood, 2024

38789118 (PubMed )

Supplement: archdischild-2024-326985supp001.pdf

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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."