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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MSL2

Variant:p.S349fs

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MSL2

NM_018133.4:p.S349fs

hg38:chr3:136151836 ACT>N

Associated Papers

Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders.

Lu X et al.

European Journal of Human Genetics : Ejhg, 2024

38702431 (PubMed )

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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."