Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.L55P
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BBS10

NM_024685.4:p.L55P

Associated Papers

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

BBS mutational analysis: a strategic approach.

Billingsley G et al.

Ophthalmic Genetics, 2011

21463199 (PubMed )
Supplement: supplement_1.pdf

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

Billingsley G et al.

Journal of Medical Genetics, 2010

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