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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PXK

Variant:p.S388_L391delFs

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PXK

NM_017771.5:p.S388_L391delFs

hg38:chr3:58399357 CTCCCGGCTCTT>C

Associated Papers

Endocrine disorders in Rett syndrome: a systematic review of the literature.

Pepe G et al.

Frontiers in Endocrinology, 2024

39544232 (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."