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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLN3

Variant:p.L302_F303Splc

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CLN3

NM_001042432.2:p.L302_F303Splc

hg38:chr16:28482475 A>T

Associated Papers

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.

Refeat MM et al.

Neurogenetics, 2023

36435927 (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."