Varaico: Literature-Extracted Genetic Variants

Gene:RSPO4
Variant:p.G67R
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RSPO4

NM_001029871.4:p.G67R

Associated Papers

A novel variation in RSPO4 causing nonsyndromic congenital nail disorder-4 in a Chinese patient.

Zhang Q et al.

Frontiers in Pediatrics, 2025

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

Khan TN et al.

Bmc Medical Genetics, 2012

A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.

Chishti MS et al.

The British Journal of Dermatology, 2008

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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."