Varaico: Literature-Extracted Genetic Variants

Gene:HLX
Variant:p.G413_A414ins15
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HLX

NM_021958.4:p.G413_A414ins15

Associated Papers

Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.

Miao Y et al.

Molecular Genetics & Genomic Medicine, 2025

40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › mother.xlsx › Sheet1

Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.

Suárez-González J et al.

Bmc Medical Genomics, 2021

33771153 (PubMed )
Supplement: 12920_2021_943_MOESM2_ESM.xls › Retained_Variants
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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."