Novel Compound Heterozygous <i>BBS2</i> and Homozygous <i>MKKS</i> Variants Detected in Chinese Families with Bardet–Biedl Syndrome

<div>Conservation analysis and protein structure changes with variant p.T79P in the <i>BBS2</i> gene. (a) The threonine located at position 79 is conserved residue among vertebrates. (b) The hydrophilic threonine was substituted to hydrophilic proline, causing the protein structure change.</div>

Journal of Ophthalmology

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Figure 2: Novel Compound Heterozygous <i>BBS2</i> and Homozygous <i>MKKS</i> Variants Detected in Chinese Families with Bardet–Biedl Syndrome 

Journal of Ophthalmology

Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome

Figure 2