Varaico: Literature-Extracted Genetic Variants

Gene:MYO1H
Variant:p.I991_V992del1
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MYO1H

NM_001101421.4:p.I991_V992del1

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia.

Selçuk E et al.

Molecular Genetics and Genomics : Mgg, 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."