Varaico: Literature-Extracted Genetic Variants

Gene:MAN2C1
Variant:p.S141Splc
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MAN2C1

NM_006715.4:p.S141Splc

Associated Papers

A validated heart-specific model for splice-disrupting variants in childhood heart disease.

Lesurf R et al.

Genome Medicine, 2024

39402625 (PubMed )
Supplement: 13073_2024_1383_MOESM3_ESM.xlsx › Table_S3

Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson's Disease in Italian Patients.

Palomba NP et al.

Molecular Neurobiology, 2023

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Gialluisi A et al.

Molecular Neurodegeneration, 2021

34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf
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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."