Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.P608del1
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DIAPH1

NM_005219.5:p.P608del1

Associated Papers

Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications.

Wee K et al.

Scientific Reports, 2025

40328872 (PubMed )
Supplement: 41598_2025_549_MOESM4_ESM.xlsx › Sheet_1

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10489.xls › SNVIndel

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.

Zhang D et al.

Annals of Human Genetics, 2022

35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData

Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

He C et al.

Nature Communications, 2021

34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2c

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf

Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Rusch M et al.

Nature Communications, 2018

30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM9_ESM.xlsx › 6B.EXONIC_INDEL_VALIDATION

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1
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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."