Varaico: Literature-Extracted Genetic Variants

Gene:DRICH1
Variant:p.D126_A127del1
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DRICH1

NM_016449.4:p.D126_A127del1

Associated Papers

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.

Flümann R et al.

Blood Cancer Discovery, 2023

36346827 (PubMed )
Supplement: bcd-22-0007_table_s6_suppst6.xlsx › F_Mut_Pat.__6

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Perne C et al.

Plos One, 2021

34843512 (PubMed )
Supplement: pone.0259185.s010.xlsx › Tabelle1

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 3._co-segregation

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2

Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Li YY et al.

Nature Communications, 2017

28098136 (PubMed )
Supplement: ncomms14121-s6.xlsx › Primary_Recurrences_or_mets
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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."