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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CUL7

Variant:p.H1175Y

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CUL7

NM_014780.5:p.H1175Y

hg38:chr6:43042924 G>A

Associated Papers

Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes.

Pasińska M et al.

The Application of Clinical Genetics, 2025

41069520 (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."