Varaico: Literature-Extracted Genetic Variants

Gene:TMEM11
Variant:p.S125F
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TMEM11

NM_003876.3:p.S125F

Associated Papers

Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.

Daneshi A et al.

Bmc Medical Genomics, 2023

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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."