Varaico: Literature-Extracted Genetic Variants

Gene:KMT5B
Variant:p.R143C
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KMT5B

NM_017635.5:p.R143C

Associated Papers

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Sevim Bayrak C et al.

Genome Medicine, 2020

31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2

Novel insights into the genetic landscape of congenital heart disease with systems genetics.

Gabriel GC et al.

Progress in Pediatric Cardiology, 2019

Cilia and Ciliopathies in Congenital Heart Disease.

Klena NT et al.

Cold Spring Harbor Perspectives in Biology, 2017

High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila.

Zhu JY et al.

Elife, 2017

28084990 (PubMed )
Supplement: elife-22617-supp1.xlsx › Sheet1

De novo mutations in histone-modifying genes in congenital heart disease.

Zaidi S et al.

Nature, 2013

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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."