Varaico: Literature-Extracted Genetic Variants

Gene:MIB1
Variant:p.S844Fs
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MIB1

NM_020774.4:p.S844Fs

Associated Papers

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.

Marsili L et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2023

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