Varaico: Literature-Extracted Genetic Variants

Gene:ZNF587
Variant:p.R371L
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ZNF587

NM_001204817.2:p.R371L

Associated Papers

Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

Sio CA et al.

Pediatric Research, 2017

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Chow YP et al.

Orphanet Journal of Rare Diseases, 2017

28222800 (PubMed )
Supplement: 13023_2017_575_MOESM2_ESM.xlsx › Table_S1
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