Associated Papers
Novel Biallelic INTS1 Variants May Expand the Phenotypic Spectrum of INTS1-Related Disorders-Case Report and Literature Review.
Wnuk-Kłosińska A et al.
Genes, 2025
A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.
Confino S et al.
Disease Models & Mechanisms, 2024
39189071 (PubMed )
Supplement: dmm-17-050746-TableS2.xlsx › Sheet1
Application of full-genome analysis to diagnose rare monogenic disorders.
Shieh JT et al.
Npj Genomic Medicine, 2021
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.
Krall M et al.
European Journal of Human Genetics : Ejhg, 2019
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