Varaico: Literature-Extracted Genetic Variants

Gene:AQP7
Variant:p.G214R
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AQP7

NM_001170.3:p.G214R

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Chen M et al.

Signal Transduction and Targeted Therapy, 2022

34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P8944-S3

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

Discovery of naturally occurring ESR1 mutations in breast cancer cell lines modelling endocrine resistance.

Martin LA et al.

Nature Communications, 2017

29192207 (PubMed )
Supplement: 41467_2017_1864_MOESM3_ESM.xlsx › SUM44-LTED

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_early_met_1

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Reimann E et al.

Human Genomics, 2014

25496518 (PubMed )
Supplement: 40246_2014_20_MOESM2_ESM.xlsx › Sheet1

Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Egan JB et al.

Plos One, 2014

24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3
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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."