Publications:

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

Journal Of Medical Genetics

Harville, H M HM; Held, S S; Diaz-Font, A A; Davis, E E EE; Diplas, B H BH; Lewis, R A RA; Borochowitz, Z U ZU; Zhou, W W; Chaki, M M; MacDonald, J J; Kayserili, H H; Beales, P L PL; Katsanis, N N; Otto, E E; Hildebrandt, F F

Publication Date: 2010-04

Variant appearance in text: BBS7: E596K

PubMed Link: 19797195

Variant Present in the following documents:

• Main text

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