Varaico: Literature-Extracted Genetic Variants

Gene:MYH13
Variant:p.K807del1
Back to variants list

MYH13

NM_003802.3:p.K807del1

Associated Papers

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

Doucette LP et al.

European Journal of Human Genetics : Ejhg, 2021

33776059 (PubMed )
Supplement: 41431_2021_872_MOESM2_ESM.xlsx › Sheet1

Exome sequencing in 51 early onset non-familial CRC cases.

Thutkawkorapin J et al.

Molecular Genetics & Genomic Medicine, 2019

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
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."