Varaico: Literature-Extracted Genetic Variants

Gene:NDC1
Variant:p.S569L
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NDC1

NM_018087.5:p.S569L

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

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.

Smits DJ et al.

Hgg Advances, 2024

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