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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZNF382

Variant:p.P495_Q496del2

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ZNF382

NM_032825.5:p.P495_Q496del2

hg38:chr19:36627379 TCCTCAG>T

Associated Papers

Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1.

Gao CW et al.

Plos Genetics, 2024

38857303 (PubMed )

Supplement: pgen.1011310.s010.pdf

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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."