Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.R147*
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MYOC

NM_000261.2:p.R147*

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS06_het

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review.

Li X et al.

Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0

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