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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MLC1

Variant:p.S280fs

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MLC1

NM_015166.4:p.S280fs

hg38:chr22:50068489 TGA>N

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

Novel variants causing megalencephalic leukodystrophy in Sudanese families.

Amin M et al.

Journal of Human Genetics, 2022

34504271 (PubMed )

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