Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.S165F
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BAG3

NM_004281.4:p.S165F

Associated Papers

Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies.

Qu HQ et al.

Journal of the American Heart Association, 2022

36382946 (PubMed )
Supplement: JAH3-11-e027373-s001.pdf

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).

Grosz BR et al.

Scientific Reports, 2019

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