Varaico: Literature-Extracted Genetic Variants

Gene:TCEAL1
Variant:p.M85I
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TCEAL1

NM_004780.3:p.M85I

Associated Papers

Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.

Kayazawa T et al.

Ophthalmic Genetics, 2022

35026968 (PubMed )
Supplement: supplement_1.pdf

The C-terminal region of Schizosaccaromyces pombe proliferating cell nuclear antigen is essential for DNA polymerase activity.

Kelman Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

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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."