Associated Papers
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf
SLC7A14 linked to autosomal recessive retinitis pigmentosa.
Jin ZB et al.
Nature Communications, 2014
24670872 (PubMed )
Supplement: ncomms4517-s1.pdf
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