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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTSS1

Variant:p.A11insFs

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MTSS1

NM_014751.6:p.A11insFs

hg38:chr8:124727923 C>CG

Associated Papers

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Messchaert M et al.

Human Mutation, 2018

29159838 (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."