Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Conflicting_Pathogenicity_
Whole genome sequencing in high-grade cervical intraepithelial neoplasia patients from different ethnic groups in China.
Wang J et al.
Medicine, 2023
37960754 (PubMed )
Supplement: medi-102-e35953-s002.xlsx › Suppl_Table2
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
33151962 (PubMed )
Supplement: pone.0234100.s007.xlsx › Unweighted_ClinVar_Muts
Haploinsufficiency in tumor predisposition syndromes: altered genomic transcription in morphologically normal cells heterozygous for VHL or TSC mutation.
Peri S et al.
Oncotarget, 2017
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