Varaico: Literature-Extracted Genetic Variants

Gene:S1PR2
Variant:p.R211H
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S1PR2

NM_004230.4:p.R211H

Associated Papers

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S9

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1164.429

Limited Utility of Existing Hearing Loss Panels in the Assessment of Early-Onset, Bilateral Meniere's Disease.

Shah KV et al.

Oto Open, 0

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