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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD1

Variant:p.S955fs

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CHD1

NM_001270.4:p.S955fs

hg38:chr5:98881979 TGA>N

Associated Papers

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

Anderson KJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40385454 (PubMed )

Supplement: media-1.xlsx › Supp._Table_2_-_LOF___splice

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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."