Varaico: Literature-Extracted Genetic Variants

Gene:DDI2
Variant:p.P375L
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DDI2

NM_032341.5:p.P375L

Associated Papers

Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.

Miao Y et al.

Molecular Genetics & Genomic Medicine, 2025

40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › mother.xlsx › Sheet1

Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Lin D et al.

Bmc Medical Genomics, 2023

36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM3_ESM.xlsx › Sheet1

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Tang CSM et al.

Jci Insight, 2022

34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable7._Rec_CADD20

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Qin W et al.

Human Molecular Genetics, 2021

33835157 (PubMed )
Supplement: supplementary_tables_ddab090.xlsx › Supplementary_Table_2

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.

Wang J et al.

Frontiers in Pediatrics, 2020

33344382 (PubMed )
Supplement: Table_2.XLSX › Result
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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."