Varaico: Literature-Extracted Genetic Variants

Gene:MESP2
Variant:p.S60_R62del0
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MESP2

NM_001039958.2:p.S60_R62del0

Associated Papers

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

Wu J et al.

Frontiers in Genetics, 2022

35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.

Yang Y et al.

Pediatric Investigation, 2021

34589676 (PubMed )
Supplement: PED4-5-211-s001.pdf

Mutation Analysis of Colorectal and Gastric Carcinomas Originating from Adenomas: Insights into Genomic Evolution Associated with Malignant Progression.

Lee SH et al.

Cancers, 2020

32023847 (PubMed )
Supplement: cancers-12-00325-s001.zip › cancers-689749-supplement_final › Table_S2.xlsx › TableS3

Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Zhou QH et al.

Cell Death & Disease, 2018

29880898 (PubMed )
Supplement: 41419_2018_736_MOESM7_ESM.xlsx › Sheet1

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Bhattacharya S et al.

Genome Research, 2018

29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic
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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."