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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM107

Variant:p.S104del1

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TMEM107

NM_032354.5:p.S104del1

hg38:chr17:8174577 AAGG>A

Associated Papers

TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.

Shylo NA et al.

Human Mutation, 2016

26518474 (PubMed )

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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."