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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NSD1

Variant:p.P1006delFs

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NSD1

NM_022455.5:p.P1006delFs

hg38:chr5:177211413 TC>T

Associated Papers

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

Pande S et al.

European Journal of Human Genetics : Ejhg, 2024

38114583 (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."