Varaico: Literature-Extracted Genetic Variants

Gene:MAK
Variant:p.I189V
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MAK

NM_001242957.3:p.I189V

Associated Papers

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

Sio CA et al.

Pediatric Research, 2017

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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."