Associated Papers
Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.
Guo R et al.
Scientific Reports, 2025
40715143 (PubMed )
Supplement: 41598_2025_6977_MOESM2_ESM.xlsx › Sheet1
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Cornelis SS et al.
Human Mutation, 2023
40225145 (PubMed )
Supplement: 6815504.f1.zip › S1_ACMG_Categorisation.xlsx › Overview_S1
TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.
da Silva EM et al.
Npj Breast Cancer, 2021
33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.
Joo K et al.
Molecular Vision, 2019
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
Lesch B et al.
Molecular Vision, 2008
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