Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.A3057delFs
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PKHD1

NM_138694.4:p.A3057delFs

Associated Papers

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.

Chung CCY et al.

The Lancet Regional Health. Western Pacific, 2020

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Zhao S et al.

European Journal of Human Genetics : Ejhg, 2019

30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."