Varaico: Literature-Extracted Genetic Variants

Gene:MAN2C1
Variant:p.K200_G201Splc
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MAN2C1

NM_006715.4:p.K200_G201Splc

Associated Papers

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Akula SK et al.

Jama Neurology, 2023

Destabilization of mutated human PUS3 protein causes intellectual disability.

Lin TY et al.

Human Mutation, 2022

36125428 (PubMed )
Supplement: HUMU-43-2063-s002.xlsx › Pat._3_

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6
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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."