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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KDM6B

Variant:p.P549_T550del0

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KDM6B

NM_001348716.2:p.P549_T550del0

hg38:chr17:7847924 CCCCCAA>C

Associated Papers

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Rots D et al.

American Journal of Human Genetics, 2023

37196654 (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."