Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.P409R
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SALL4

NM_020436.5:p.P409R

Associated Papers

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome.

Watson JA et al.

Life Science Alliance, 2023

36635047 (PubMed )
Supplement: LSA-2022-01588_SdataF1.xlsx › Fig1a_ClinVar_uncertain_full
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