Varaico: Literature-Extracted Genetic Variants

Gene:FMNL1
Variant:p.P612del1
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FMNL1

NM_005892.4:p.P612del1

Associated Papers

De novo variants in DENND5B cause a neurodevelopmental disorder.

Scala M et al.

American Journal of Human Genetics, 2024

38387458 (PubMed )
Supplement: mmc3.xlsx › Foglio1

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 19R03642.xls › SNVIndel

Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.

Wieben ED et al.

Investigative Ophthalmology & Visual Science, 2019

31469403 (PubMed )
Supplement: iovs-60-10-11_s03.pdf

Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature.

Ayres-Silva JP et al.

Frontiers in Oncology, 2018

29515972 (PubMed )
Supplement: table_1.xlsx › suppl_table_1
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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."