Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R386Splc
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LMNA

NM_170707.4:p.R386Splc

Associated Papers

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Huerta-Chagoya A et al.

Nature Genetics, 2024

39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.

Schroeder P et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808701 (PubMed )
Supplement: media-2.xlsx › T6

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

30402260 (PubMed )
Supplement: openhrt-2018-000915supp002.xlsx › gnomad_ENSG00000160789_2017_12_
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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."