Varaico: Literature-Extracted Genetic Variants

Gene:MDFIC
Variant:p.M131fs
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MDFIC

NM_001166345.3:p.M131fs

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

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."