Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.S1887_P1888del2
Back to variants list

KMT2B

NM_014727.3:p.S1887_P1888del2

Associated Papers

Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families.

Kittaka M et al.

Jbmr Plus, 2024

38699440 (PubMed )
Supplement: supplementary_table_1_new_ziae050.xlsx › Supplementary_Table_1

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."