Varaico: Literature-Extracted Genetic Variants

Gene:KDSR
Variant:p.V171A
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KDSR

NM_002035.4:p.V171A

Associated Papers

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Öfverholm I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Marconi C et al.

Haematologica, 2023

36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS4_SUPPL.xlsx › Foglio1

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S16_germline_mutation

Germline MUTYH Mutation in a Pediatric Cancer Survivor Developing a Secondary Malignancy.

Lavergne V et al.

Journal of Pediatric Hematology/oncology, 2020

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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."