Varaico: Literature-Extracted Genetic Variants

Gene:ZNF486
Variant:p.Y210*
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ZNF486

NM_052852.4:p.Y210*

Associated Papers

The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.

Bachetti T et al.

International Journal of Molecular Sciences, 2021

33917126 (PubMed )
Supplement: ijms-22-03831-s001.zip › TableS1_IJMS_Lantieri.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1635.580
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