Associated Papers
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
Pham DH et al.
Human Mutation, 2021
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
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