Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.N344S
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MLC1

NM_015166.4:p.N344S

Associated Papers

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.

Mahmoud IG et al.

Pediatric Neurology, 2014

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

Ilja Boor PK et al.

Human Mutation, 2006

MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India.

Verma R et al.

Biological Psychiatry, 2005

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Rubie C et al.

Human Mutation, 2003

A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia.

McQuillin A et al.

European Journal of Human Genetics : Ejhg, 2002

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

Leegwater PA et al.

Human Genetics, 2002

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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."