Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.Q418_A419Splc
Back to variants list

COMP

NM_000095.3:p.Q418_A419Splc

Associated Papers

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.

Jiang M et al.

Frontiers in Genetics, 2025

40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1

Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases.

Peng Y et al.

Frontiers in Genetics, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."