Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMC5.xlsx › Missense_ISAs
Transferrin receptor levels and its rare variant are associated with human obesity.
Qiu J et al.
Journal of Diabetes, 2024
Mutation Analysis of Second Primary Tumors in Oral Cancer in Taiwanese Patients through Next-Generation Sequencing.
Liu TY et al.
Diagnostics (basel, Switzerland), 2022
35453999 (PubMed )
Supplement: diagnostics-12-00951-s001.zip › Table_S3_0707R.xlsx › Table_S3
Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.
Karanovic D et al.
Frontiers in Immunology, 2019
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Santos PC et al.
Blood Cells, Molecules & Diseases, 2011
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