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
Whole exome sequencing enables the correct diagnosis of Frank-Ter Haar syndrome in a Saudi family.
Khan YN et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2024
Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.
Hashmi JA et al.
Frontiers in Genetics, 2024
The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.
Massadeh S et al.
Genes, 2022
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.
Türkyilmaz A et al.
Clinical Dysmorphology, 2022
Select a paper to view details