SWISSVAR
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1 protein found in SwissVar (5 variants)

with gene/protein name Q8N960

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q8N960 CE120_HUMAN short-rib thoracic dysplasia 13 with or without polydactyly p.Ala199Pro

Q8N960 CE120_HUMAN joubert syndrome 31 p.Val194Ala
p.Ala549Val
p.Leu712Phe
p.Leu726Pro