Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.A275T
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MLC1

NM_015166.4:p.A275T

Associated Papers

Genomic landscapes of canine splenic angiosarcoma (hemangiosarcoma) contain extensive heterogeneity within and between patients.

Wong S et al.

Plos One, 2022

35867969 (PubMed )
Supplement: pone.0264986.s006.xlsx › Table_S6

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.

Cao B et al.

Plos One, 2016

[Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].

Guo MM et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.

Xie H et al.

Plos One, 2012

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

Wang J et al.

Journal of Human Genetics, 2011

[Effects on astrocytic function from MLC1 gene mutation with megalencephalic leukoencephalopathy with subcortical cysts].

Wang JM et al.

Sheng Li Ke Xue Jin Zhan [progress in Physiology], 2010

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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."