Varaico: Literature-Extracted Genetic Variants

Gene:ZCCHC3
Variant:p.A132V
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ZCCHC3

NM_033089.7:p.A132V

Associated Papers

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Lyon GJ et al.

Cold Spring Harbor Molecular Case Studies, 2019

31387860 (PubMed )
Supplement: supp_mcs.a003715_Supplemental_Table_1.xlsx › 16_merge.bam.vcf.hg19_multianno
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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."