Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.I981_K982ins4
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SALL1

NM_002968.3:p.I981_K982ins4

Associated Papers

Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.

Wang Z et al.

Orphanet Journal of Rare Diseases, 2023

37644569 (PubMed )
Supplement: 13023_2023_2874_MOESM1_ESM.docx

Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood.

Faguer S et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

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