Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R4478insFs
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KMT2D

NM_003482.4:p.R4478insFs

Associated Papers

KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.

Kalinousky AJ et al.

Genes, 2023

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH et al.

Genome Medicine, 2017

29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup
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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."