Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.A502A
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BBS12

NM_152618.3:p.A502A

Associated Papers

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.

Aslam F et al.

Scientific Reports, 2026

41606223 (PubMed )
Supplement: 41598_2026_37808_MOESM3_ESM.xlsx › Sheet1

Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (USP53) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1-3 and Granular Dentate with AMPA Synapse Interactions.

Kanwal A et al.

Genes, 2023

37895270 (PubMed )
Supplement: genes-14-01921-s001.zip › genes-2602017-supplementary.pdf
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