Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.D3553N
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USH2A

NM_206933.4:p.D3553N

Associated Papers

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.

Stephenson KAJ et al.

Investigative Ophthalmology & Visual Science, 2023

37466950 (PubMed )
Supplement: iovs-64-10-23_s002.xlsx › Sheet1

A novel statistical method for interpreting the pathogenicity of rare variants.

Wang J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S8_USH2A_variants

Characterisation of the genomic landscape of CRLF2-rearranged acute lymphoblastic leukemia.

Russell LJ et al.

Genes, Chromosomes & Cancer, 2017

28033648 (PubMed )
Supplement: GCC-56-363-s002.xlsx › Supplementary_Table_9
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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."