Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.D4637N
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SYNE1

NM_182961.4:p.D4637N

Associated Papers

A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.

Cannon-Albright LA et al.

Cancers, 2023

38136396 (PubMed )
Supplement: cancers-15-05851-s001.zip › cancers-2619236-supplementary_MDH2_V2.xlsx › Table_S1

Exceptional responses to PARP inhibitors in patients with metastatic breast cancer in oncologic crisis.

Cheng JM et al.

Breast Cancer Research and Treatment, 2023

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

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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."