Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.N141_I142Splc
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MLC1

NM_015166.4:p.N141_I142Splc

Associated Papers

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

Passchier EMJ et al.

Frontiers in Genetics, 2024

38487253 (PubMed )
Supplement: Table1.pdf

The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report.

Sabermoghadam R et al.

Iranian Journal of Child Neurology, 2023

Novel mutations of the MLC1 gene in Turkish patients.

Yüzbaşioğlu A et al.

European Journal of Medical Genetics, 0

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