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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD4

Variant:p.G1129R

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CHD4

NM_001273.5:p.G1129R

hg38:chr12:6588378 C>T

Associated Papers

Sifrim-Hitz-Weiss/CHD4-related syndrome: A new case report.

Zhang B et al.

Pediatric Investigation, 2023

37324594 (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."