Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.S574C
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BBS7

NM_176824.3:p.S574C

Associated Papers

The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers.

Aguilar-Mahecha A et al.

Genes, 2023

38254917 (PubMed )
Supplement: genes-15-00027-s001.zip › Aguilar-Mahecha_et_al_SupplTables_Finalv2.xlsx › Suppl_Table_S2

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J et al.

Human Genetics, 2010

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