Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.D2053E
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RP1L1

NM_178857.6:p.D2053E

Associated Papers

Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Körber V et al.

Nature Genetics, 2023

36973454 (PubMed )
Supplement: 41588_2023_1332_MOESM4_ESM.xlsx › Supplementary_Table_2

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

Nazarenko MS et al.

International Journal of Molecular Sciences, 2022

36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J et al.

International Journal of Molecular Sciences, 2021

33546218 (PubMed )
Supplement: ijms-22-01508-s001.zip › Supplementary_Files › Supplementary_Table_S1_Candidate_variants_undiagnosed_cases.xlsx › Supplementary_table_2

Identification of Targetable Lesions in Anaplastic Thyroid Cancer by Genome Profiling.

Ravi N et al.

Cancers, 2019

30909364 (PubMed )
Supplement: cancers-11-00402-s001.zip › cancers-454918-suppl-final › cancers-454918-Table-S3.xlsx › Sheet1
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