Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.A30A
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SIX3

NM_005413.4:p.A30A

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

Jimenez NL et al.

Bmc Medical Genetics, 2011

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

Zhang X et al.

Molecular Vision, 2009

Mutations in holoprosencephaly.

Wallis D et al.

Human Mutation, 2000

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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."