Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.Q10*
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MFAP1

NM_005926.3:p.Q10*

Associated Papers

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Arriaga TM et al.

American Journal of Human Genetics, 2025

Clinical characteristics and multimodal imaging can help diagnosing and treating mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy.

Dimova PS et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2024

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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."