Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.S60P
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NPAP1

NM_018958.3:p.S60P

Associated Papers

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.

Cuk M et al.

Genes, 2024

39062725 (PubMed )
Supplement: genes-15-00946-s001.zip › Supplementary_Table_S1.xlsx › Supplementary_Table_S1
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