Varaico: Literature-Extracted Genetic Variants

Gene:MKS1
Variant:p.R166W
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MKS1

NM_017777.4:p.R166W

Associated Papers

PENTOSAN POLYSULFATE SODIUM (ELMIRON) MACULOPATHY: A Genetic Perspective.

Kalaw FGP et al.

Retina (philadelphia, Pa.), 2023

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

Tallila J et al.

Human Mutation, 2009

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