Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.F254V
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SIX3

NM_005413.4:p.F254V

Associated Papers

The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.

Herencia-Ropero A et al.

Genome Medicine, 2024

39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM3_ESM.xlsx › SNV

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A et al.

Brain : a Journal of Neurology, 2019

30508070 (PubMed )
Supplement: awy290_supplementary_appendix.pdf

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

Mercier S et al.

Journal of Medical Genetics, 2011

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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."