Associated Papers
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
Chinen Y et al.
Human Genome Variation, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL et al.
Journal of Medical Genetics, 2017
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
Lambacher NJ et al.
Nature Cell Biology, 2016
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