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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT20

Variant:p.Q264_T265Splc

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KRT20

NM_019010.3:p.Q264_T265Splc

hg38:chr17:40879939 C>A

Associated Papers

Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.

Maciolek NL et al.

Bmc Medical Genetics, 2006

16834779 (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."