Varaico: Literature-Extracted Genetic Variants

Gene:ERI2
Variant:p.T667K
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ERI2

NM_001142725.2:p.T667K

Associated Papers

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.

Meinke P et al.

Ebiomedicine, 2020

31862442 (PubMed )
Supplement: mmc1.xlsx › Family_Sequencing

A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases.

Nichols AC et al.

Case Reports in Oncological Medicine, 2013

23653877 (PubMed )
Supplement: 270362.f1.xls › SNV
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