Associated Papers
ANO5 p.I616F variant drives florid cemento-osseous dysplasia by disrupting transmembrane domain structure.
Zhang L et al.
Bmc Oral Health, 2025
40841909 (PubMed )
Supplement: 12903_2025_6717_MOESM2_ESM.xlsx › Sheet1
Integrative Analyses Identify Potential Key Genes and Calcium-Signaling Pathway in Familial Atrioventricular Nodal Reentrant Tachycardia Using Whole-Exome Sequencing.
Huang J et al.
Frontiers in Cardiovascular Medicine, 2022
35924220 (PubMed )
Supplement: Table_2.XLS › Supplementary_Table_2_2
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
Shulman C et al.
Kidney Medicine, 0
33851121 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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