Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Yu Y et al.
Molecular Genetics & Genomic Medicine, 2021
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Şeker Yılmaz B et al.
Turkish Journal of Medical Sciences, 2021
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.
Kumari C et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2017
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
Chu J et al.
Molecular Genetics and Metabolism, 2016
Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.
Ghoraba DA et al.
Meta Gene, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
Mutational analysis of the GALT gene in Filipino patients.
Estrada SC et al.
The Kobe Journal of Medical Sciences, 2013
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
Vatanavicharn N et al.
Molecular Genetics and Metabolism, 2012
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.
Dündar H et al.
Molecular Genetics and Metabolism, 2012
[Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].
Toyo-Oka Y et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 1995
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