Associated Papers
Molecular genetic analysis of pulmonary benign metastasizing leiomyoma and intravenous leiomyomatosis: a comparative study using whole exome sequencing.
Li J et al.
Discover Oncology, 2025
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
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 › ___
Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.
Giffen KP et al.
Science Advances, 2022
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
33691693 (PubMed )
Supplement: 12920_2021_874_MOESM2_ESM.xlsx › Sheet1
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
Narang A et al.
Human Mutation, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.
Wang Y et al.
Frontiers in Cell and Developmental Biology, 2020
33251213 (PubMed )
Supplement: Data_Sheet_1.XLSX › S5.Clinical_SNVs
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy.
Guo LY et al.
Ophthalmic Genetics, 2019
SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.
Hariprakash JM et al.
Database : the Journal of Biological Databases and Curation, 2018
SLC7A14 linked to autosomal recessive retinitis pigmentosa.
Jin ZB et al.
Nature Communications, 2014
Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa.
Sugahara M et al.
Ophthalmic Genetics, 0
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