Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.H62R
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BBS10

NM_024685.4:p.H62R

Associated Papers

BBS mutational analysis: a strategic approach.

Billingsley G et al.

Ophthalmic Genetics, 2011

21463199 (PubMed )
Supplement: supplement_1.pdf

BBS10 mutations are common in 'Meckel'-type cystic kidneys.

Putoux A et al.

Journal of Medical Genetics, 2010

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