Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.V107insFs
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MLC1

NM_015166.4:p.V107insFs

Associated Papers

Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.

Nair LS et al.

Pediatric Neurology, 2024

Leukodystrophies: clinical and genetic aspects.

Lyon G et al.

Topics in Magnetic Resonance Imaging : Tmri, 2006

Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.

Gorospe JR et al.

Neurology, 2004

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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."