Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.T688M
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SALL1

NM_002968.3:p.T688M

Associated Papers

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.

Yan X et al.

Journal of Medical Genetics, 2024

38296632 (PubMed )
Supplement: jmg-2023-109579supp002.pdf

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.

Aguiar TFM et al.

Frontiers in Oncology, 2020

32432034 (PubMed )
Supplement: Table_6.XLSX › HB33

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Chudasama P et al.

Nature Communications, 2018

29321523 (PubMed )
Supplement: 41467_2017_2602_MOESM4_ESM.xlsx › 4_Somatic_SNVs
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