Varaico: Literature-Extracted Genetic Variants

Gene:CUL7
Variant:p.H1215_V1216Splc
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CUL7

NM_014780.5:p.H1215_V1216Splc

Associated Papers

Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.

Huang Y et al.

Scientific Reports, 2025

40596606 (PubMed )
Supplement: 41598_2025_7570_MOESM2_ESM.xlsx › sheet1

Exome Sequencing Analysis and Clinical Features of a Chinese Patient with 3M Syndrome and A Review of Literature.

Chen XL et al.

The Application of Clinical Genetics, 2025

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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."