Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.V198M
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MARVELD2

NM_001038603.3:p.V198M

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_S3

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.

Lu Y et al.

Journal of Human Genetics, 2014

New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population.

Zheng J et al.

Journal of Zhejiang University. Science. B, 0

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