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Mengting Li

3PUBLICATIONS

5CO-AUTHORS

NeurogeneticsContaminant hydrologyMedical biotechnology diagnostics (incl. biosensors)

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Publications (3)

Sort by Publication Date:

|May 12, 2021

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

Sheng Yi, Yue Zhang, Zailong Qin

|Mar 16, 2021

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Jiasun Su, Weiliang Lu, Mengting Li

|Jun 11, 2020

Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.

Mengting Li, Qi Yang, Sheng Yi

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Frequent Collaborators

2 joint publications

Sheng Yi

2 joint publications

Yiping Shen

2 joint publications

Zailong Qin

1 joint publications

Jiasun Su

1 joint publications

Weiliang Lu

Frequent Collaborators

2 joint publications

Sheng Yi

2 joint publications

Yiping Shen

2 joint publications

Zailong Qin

1 joint publications

Jiasun Su

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