# Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/consensus-interpretation-of-the-p-met34thr-and-p-val37ile-variants-in-gjb2-by/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Jun Shen,Andrea M. Oza,Ignacio del Castillo,Hatice Duzkale,Tatsuo Matsunaga,Arti Pandya,Hyunseok P. Kang,Rebecca Mar‐Heyming,Saurav Guha,Krista Moyer,Christine Lo,Margaret A. Kenna,John Alexander,Yan Zhang,Yoel Hirsch,Minjie Luo,Ye Cao,Kwong Wai Choy,Yen‐Fu Cheng,Karen B. Avraham,Xin‐Hua Hu,Gema Garrido,Miguel A. Moreno‐Pelayo,John H. Greinwald,Kejian Zhang,Yukun Zeng,Zippora Brownstein,Lina Basel-Salmon,Bella Davidov,Moshe Frydman,Tzvi Weiden,Narasimhan Nagan,Alecia Willis,Sarah E. Hemphill,Andrew R. Grant,Rebecca K. Siegert,Marina T. DiStefano,Sami S. Amr,Heidi L. Rehm,Ahmad Abou Tayoun,Héla Azaiez,Kevin T. Booth,Richard J. Smith,Anne B.S. Giersch,Cynthia C. Morton,Xue Z. Liu,Mustafa Tekin,Yu Hong Lu,Huijun Yuan,Hideki Mutai,Lisa A. Schimmenti |
| Citations | 108 |
| DOI | 10.1038/s41436-019-0535-9 |
| Fields | Biochemistry, Genetics and Molecular Biology,Neuroscience |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/s41436-019-0535-9.pdf |
| OpenAlex ID | https://openalex.org/W2951843383 |
| PMID | 31160754 |
| Type | article |
| Year | 2019 |

## Paper authors

- [Christine Lo](https://scholariq.org/researchers/christine-lo/)

## Paper primary topic

- [Hearing, Cochlea, Tinnitus, Genetics](https://scholariq.org/topics/hearing-cochlea-tinnitus-genetics/)

## Paper topics

- [Hearing, Cochlea, Tinnitus, Genetics](https://scholariq.org/topics/hearing-cochlea-tinnitus-genetics/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Vestibular and auditory disorders](https://scholariq.org/topics/vestibular-and-auditory-disorders/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.