Varaico: Literature-Extracted Genetic Variants

Gene:ACMSD
Variant:p.D55H
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ACMSD

NM_138326.3:p.D55H

Associated Papers

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

Bonnard C et al.

The Journal of Experimental Medicine, 2020

32845958 (PubMed )
Supplement: JEM_20191561_TableS1.xlsx › WES_All

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Liu Y et al.

Genetics and Molecular Biology, 0

28590501 (PubMed )
Supplement: 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
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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."