Varaico: Literature-Extracted Genetic Variants

Gene:PHB2
Variant:p.M1T
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PHB2

NM_001144831.2:p.M1T

Associated Papers

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.

Urzúa B et al.

Biochemical Genetics, 2011

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Maia-Lopes S et al.

Molecular Vision, 2009

[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].

Nakazawa M

Nippon Ganka Gakkai Zasshi, 1999

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.

Unknown Author

Human Molecular Genetics, 1998

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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."