J Hum Genet
From Bioblast
Journal title and website | Journal of Human Genetics |
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Publications
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Zhou 2022 J Hum Genet | Zhou X, Lou X, Zhou Y, Xie Y, Han X, Dong Q, Ying X, Laurentinah MR, Zhang L, Chen Z, Li D, Fang H, Lyu J, Yang Y, Wang Y (2022) Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency. https://doi.org/10.1038/s10038-022-01102-4 | 2022 | J Hum Genet 68:239-46. PMID: 36482121 Open Access |
Xu 2017 J Hum Genet | Xu B, Li X, Du M, Zhou C, Fang H, Lyu J, Yang Y (2017) Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome. J Hum Genet 62:291-7. | 2017 | PMID: 27761019 |