Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.G548D
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MKKS

NM_170784.3:p.G548D

Associated Papers

Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.

Peixoto de Barcelos I et al.

Brain Sciences, 2023

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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."