Varaico: Literature-Extracted Genetic Variants

Gene:LZTFL1
Variant:p.L87P
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LZTFL1

NM_020347.4:p.L87P

Associated Papers

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.

Schaefer E et al.

Clinical Genetics, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."