Varaico: Literature-Extracted Genetic Variants

Gene:RSPH1
Variant:p.H157Q
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RSPH1

NM_080860.4:p.H157Q

Associated Papers

Disorders of sex development associated with MPI and RSPH1 variants expand the phenotypic spectrum of CDG and PCD in Morocco.

Harmak H et al.

Molecular Biology Reports, 2026

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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."