Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.R230Q
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SHROOM4

NM_020717.5:p.R230Q

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 › HLMS14

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

Novice T et al.

Journal of Clinical Immunology, 2020

31853824 (PubMed )
Supplement: 10875_2019_731_MOESM1_ESM.xlsx › Sheet1
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