Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.R186H
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ABHD12

NM_001042472.3:p.R186H

Associated Papers

Characterizing and expanding the neurological clinical spectrum of PHARC syndrome: a systematic review.

Mendes Ferreira V et al.

Acta Neurologica Belgica, 2025

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi KM et al.

Ophthalmology, 2014

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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."