Varaico: Literature-Extracted Genetic Variants

Gene:SLC9C1
Variant:p.I286V
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SLC9C1

NM_183061.3:p.I286V

Associated Papers

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

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

Bonnard C et al.

The Journal of Experimental Medicine, 2020

32845958 (PubMed )
Supplement: JEM_20191561_TableS1.xlsx › WES_All

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS34

A comprehensive gene mutation screen in men with asthenozoospermia.

Visser L et al.

Fertility and Sterility, 2011

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