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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEX14

Variant:p.K195_A196Splc

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PEX14

NM_004565.3:p.K195_A196Splc

hg38:chr1:10624438 G>T

Associated Papers

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.

Waterham HR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

37493040 (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."