Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.V229M
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PGAP3

NM_033419.5:p.V229M

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

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Wagner M et al.

Nature Communications, 2019

31636353 (PubMed )
Supplement: 41467_2019_12620_MOESM2_ESM.xlsx › Tabelle1
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