Associated Papers
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 › S13_complex_alleles.xlsx › Complex_alleles_per_Study
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
The genetic landscape of metaplastic breast cancers and uterine carcinosarcomas.
Moukarzel LA et al.
Molecular Oncology, 2021
33021035 (PubMed )
Supplement: MOL2-15-1024-s001.pdf
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
Nassisi M et al.
International Journal of Molecular Sciences, 2018
Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomas.
Wu K et al.
Nature Communications, 2015
26647728 (PubMed )
Supplement: ncomms10131-s8.xlsx › Sup_Data_7
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