Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1B
Variant:p.R129Q
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GUCA1B

NM_002098.6:p.R129Q

Associated Papers

Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.

Maggi J et al.

International Journal of Molecular Sciences, 2024

38928247 (PubMed )
Supplement: ijms-25-06540-s001.zip › Manuscript_WGS_Table_S3.pdf

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

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
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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."