Varaico: Literature-Extracted Genetic Variants

Gene:DNAH7
Variant:p.M380R
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DNAH7

NM_018897.3:p.M380R

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

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Watkins WS et al.

Nature Communications, 2019

31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM3_ESM.xlsx › SuppData2.Damaged_genes

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.

Anastasaki C et al.

Oncotarget, 2017

28548933 (PubMed )
Supplement: oncotarget-08-47574-s002.xlsx › Sheet1
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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."