Varaico: Literature-Extracted Genetic Variants

Gene:ZNF717
Variant:p.H553P
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ZNF717

NM_001290208.3:p.H553P

Associated Papers

Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.

Zhong H et al.

Frontiers in Microbiology, 2026

41716284 (PubMed )
Supplement: Supplementary_file_2.xlsx › Table_S1

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.

Xie Y et al.

Children (basel, Switzerland), 2022

36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Kumar K et al.

Bmc Medical Genetics, 2020

32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1

Tumor mutation burden and recurrent tumors in hereditary lung cancer.

Hsu YC et al.

Cancer Medicine, 2019

30941903 (PubMed )
Supplement: CAM4-8-2179-s001.xlsx › S2

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.

Bavarva JH et al.

Oncotarget, 2014

24947164 (PubMed )
Supplement: oncotarget-05-4788-s001.pdf
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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."