Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.

Authors:
Zha J; Chen Y; Cao F; Xu Y; Yang Z and 4 more

Journal:
Mol Genet Genomic Med

Publication Year: 2024

DOI:
10.1002/mgg3.2394

PMCID:
PMC10858299

PMID:
38337154

View on PubMed View on PMC View Publisher
Journal Information

Full Title: Mol Genet Genomic Med

Abbreviation: Mol Genet Genomic Med

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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3/6
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Evidence found in paper:

"data availability statement the variant has been submitted to the clinvar database (accession number: sub13604828).; the data that support the findings of this study are openly available in clinvar at https://www ncbi nlm nih gov/clinvar/ reference number sub13604828."

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"CONFLICT OF INTEREST STATEMENT All authors declare that there are no conflicts of interest."

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Last Updated: Aug 05, 2025