Varaico: Literature-Extracted Genetic Variants

Gene:FDXACB1
Variant:p.L494S
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FDXACB1

NM_138378.3:p.L494S

Associated Papers

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

Liu Y et al.

Bmc Oral Health, 2024

38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Milanowski LM et al.

International Journal of Molecular Sciences, 2022

35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Heterozygotes

Identification of potential causal variants for premature ovarian failure by whole exome sequencing.

Jin H et al.

Bmc Medical Genomics, 2020

33109206 (PubMed )
Supplement: 12920_2020_813_MOESM1_ESM.xlsx › Table_S4
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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."