Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R2789Q
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KMT2D

NM_003482.4:p.R2789Q

Associated Papers

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Yap KL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

Yap KL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Non-invasive monitoring of diffuse large B-cell lymphoma by cell-free DNA high-throughput targeted sequencing: analysis of a prospective cohort.

Bohers E et al.

Blood Cancer Journal, 2018

30069017 (PubMed )
Supplement: 41408_2018_111_MOESM2_ESM.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."