Varaico: Literature-Extracted Genetic Variants

Gene:ZNF536
Variant:p.G734A
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ZNF536

NM_014717.3:p.G734A

Associated Papers

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Zlotina A et al.

Bmc Medical Genomics, 2020

33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.

Thal DR et al.

International Journal of Molecular Sciences, 2015

26506339 (PubMed )
Supplement: ijms-16-25050-s001.zip › ijms-101073-Tables_S1_and_S2.xls › Table_S2
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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."