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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CENPF

Variant:p.Q1193_L1196del4

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CENPF

NM_016343.4:p.Q1193_L1196del4

hg38:chr1:214641913 CTCAGATGGATCT>C

Associated Papers

Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features.

Al Mutairi F et al.

Heliyon, 2024

39166056 (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."