Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.M50R
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ARID1A

NM_006015.6:p.M50R

Associated Papers

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

M'hamdi O et al.

Clinical Genetics, 2014

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Chen J et al.

Investigative Ophthalmology & Visual Science, 2011

[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial].

Chaabouni M et al.

La Tunisie Medicale, 2007

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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."