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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PALS1

Variant:p.G205_E207delFs

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PALS1

NM_022474.4:p.G205_E207delFs

hg38:chr14:67301424 AGGACAAG>A

Associated Papers

Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations.

Lopes da Costa B et al.

Biomedicines, 2023

36830922 (PubMed )

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

Mairot K et al.

International Journal of Molecular Sciences, 2021

34884448 (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."