Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.I93T
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ABCA4

NM_000350.3:p.I93T

Associated Papers

Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.

Daich Varela M et al.

Ophthalmology. Retina, 2024

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

Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Buczkowicz P et al.

Nature Genetics, 2014

24705254 (PubMed )
Supplement: NIHMS4215-supplement-10.xlsx › Supplementary_Table_2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."