Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.S98N
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SERPINH1

NM_001235.5:p.S98N

Associated Papers

Intronic hexanucleotide repeat expansion in TYMS in monozygotic twins with congenital progressive universal melanosis.

Kanchanasutthiyakorn S et al.

Biomedical Reports, 2025

Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India.

Chatterjee A et al.

Frontiers in Molecular Biosciences, 2022

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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."