Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12
Variant:p.N127_Y129Fs
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ABHD12

NM_001042472.3:p.N127_Y129Fs

Associated Papers

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.

Lerat J et al.

Journal of the Peripheral Nervous System : Jpns, 2017

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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."