Varaico: Literature-Extracted Genetic Variants

Gene:KMT5B
Variant:p.S532_P533del2
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KMT5B

NM_017635.5:p.S532_P533del2

Associated Papers

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA et al.

Nature Genetics, 2017

28191889 (PubMed )
Supplement: NIHMS846201-supplement-1.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."