Varaico: Literature-Extracted Genetic Variants

Gene:MPZL2
Variant:p.D93V
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MPZL2

NM_005797.4:p.D93V

Associated Papers

Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.

Lo E et al.

American Journal of Medical Genetics. Part A, 2024

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.

Ivarsdottir EV et al.

Communications Biology, 2021

34108613 (PubMed )
Supplement: 42003_2021_2224_MOESM2_ESM.pdf

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-19.xlsx › S_Data_18
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