Literature DB >> 32135600

[Severe proximal renal tubular acidosis with ocular abnormalities caused by SLC4A4 gene variation: a case report].

Y Liu1, W W Wang1, M F Lei2, W Y Chen1.   

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Year:  2020        PMID： 32135600     DOI： 10.3760/cma.j.issn.0578-1310.2020.03.018

Source DB:  PubMed          Journal:  Zhonghua Er Ke Za Zhi        ISSN： 0578-1310


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  1 in total

1.  Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene.

Authors:  Yan Liu; Wenchao Sheng; Jinying Wu; Jie Zheng; Xiufang Zhi; Shuyue Zhang; Chunyu Gu; Detong Guo; Wenhong Wang
Journal:  Front Pediatr       Date:  2022-08-17       Impact factor: 3.569
  1 in total

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