Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.R7772Q
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SYNE1

NM_182961.4:p.R7772Q

Associated Papers

Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.

Lieb V et al.

Cells, 2022

36429046 (PubMed )
Supplement: cells-11-03618-s001.zip › Suppl._files › Suppl._Table_S2_.xlsx › All

Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.

Lieb V et al.

Cells, 2021

34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › All

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Minoche AE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.

Aretini P et al.

Bmc Neurology, 2018

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.

Plutino M et al.

Bmc Medical Genetics, 2018

ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

Shadrina MI et al.

Cerebellum & Ataxias, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1843.647

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › nci-h661_f40r3
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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."