Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.
Zhou R et al.
Iscience, 2022
36117989 (PubMed )
Supplement: mmc5.xlsx › DBD_missense_mutations
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Donato L et al.
Plos One, 2022
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8774__IV-2_
The association between genetic variants in lactotransferrin and dental caries: a meta- and gene-based analysis.
Li X et al.
Bmc Medical Genetics, 2020
LTF and DEFB1 polymorphisms are associated with susceptibility toward chronic periodontitis development.
Zupin L et al.
Oral Diseases, 2017
Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.
Tanisawa K et al.
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017
27154906 (PubMed )
Supplement: glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx › Table_S1
Lactoferrin gene polymorphisms in Italian patients with recurrent tonsillitis.
Zupin L et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.
Rawal RM et al.
3 Biotech, 2015
28324520 (PubMed )
Supplement: 13205_2014_267_MOESM1_ESM.xlsx › WoH
Lack of association between lactotransferrin polymorphism and dental caries.
Volckova M et al.
Caries Research, 2014
Association of the -33C/G OSF-2 and the 140A/G LF gene polymorphisms with the risk of chronic rhinosinusitis with nasal polyps in a Polish population.
Zielinska-Blizniewska H et al.
Molecular Biology Reports, 2012
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
Zhang G et al.
Human Mutation, 2010
21064102 (PubMed )
Supplement: supplement_1.pdf
A novel single-nucleotide polymorphism in the lactoferrin gene is associated with susceptibility to diarrhea in North American travelers to Mexico.
Mohamed JA et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2007
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