Associated Papers
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Overview of skin diseases linked to connexin gene mutations.
Avshalumova L et al.
International Journal of Dermatology, 2014
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
Gap junction diseases of the skin.
van Steensel MA
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2004
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