Varaico: Literature-Extracted Genetic Variants

Gene:MDFIC
Variant:p.M131insFs
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MDFIC

NM_001166345.3:p.M131insFs

Associated Papers

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Byrne AB et al.

Nature Medicine, 2023

36658419 (PubMed )
Supplement: 41591_2022_2142_MOESM2_ESM.xlsx › Supplementary_Table_3

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.

Byrne AB et al.

Science Translational Medicine, 2022

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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."