Associated Papers
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData
Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene.
Chen L et al.
Cell Death & Disease, 2020
A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.
Yuan J et al.
Medicine, 2019
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
Andreoletti G et al.
Journal of Medical Genetics, 2017
27811305 (PubMed )
Supplement: jmedgenet-2016-104100supp002.pdf
Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.
Reimann E et al.
Human Genomics, 2014
25496518 (PubMed )
Supplement: 40246_2014_20_MOESM1_ESM.xlsx › Sheet1
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
Elhayek D et al.
Bmc Medical Genetics, 2013
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