Associated Papers
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___
Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.
Koo K et al.
Cancers, 2021
33804510 (PubMed )
Supplement: cancers-13-01029-s001.zip › Supplementary_Data.xlsx › Somatic_mutations
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.
Eising E et al.
Molecular Psychiatry, 2019
29463886 (PubMed )
Supplement: 41380_2018_20_MOESM1_ESM.pdf
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19
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-A7-A0CG-01A.domain
Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders.
van Veen S et al.
Frontiers in Molecular Neuroscience, 2014
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.
Worthey EA et al.
Journal of Neurodevelopmental Disorders, 2013
The E646D-ATP13A4 mutation associated with autism reveals a defect in calcium regulation.
Vallipuram J et al.
Cellular and Molecular Neurobiology, 2010
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.
Kwasnicka-Crawford DA et al.
Genomics, 2005
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