Varaico: Literature-Extracted Genetic Variants

Gene:SYNE2
Variant:p.N3982H
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SYNE2

NM_182914.3:p.N3982H

Associated Papers

Whole-Genome Landscape of Retinal Hemangioblastomas.

Bals K et al.

Translational Vision Science & Technology, 2026

41533848 (PubMed )
Supplement: tvst-15-1-5_s001.docx

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle

Development and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted Therapy.

Pan CX et al.

Plos One, 2015

26270481 (PubMed )
Supplement: pone.0134346.s006.xlsx › Supp_Table_3

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

Friedrich C et al.

Embo Molecular Medicine, 2014

24972929 (PubMed )
Supplement: emmm0006-0937-SD4.pdf
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