Varaico: Literature-Extracted Genetic Variants

Gene:ZMYND10
Variant:p.Q366*
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ZMYND10

NM_015896.4:p.Q366*

Associated Papers

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

Cho KJ et al.

Plos Genetics, 2018

Loss of zinc finger MYND-type containing 10 (zmynd10) affects cilia integrity and axonemal localization of dynein arms, resulting in ciliary dysmotility, polycystic kidney and scoliosis in medaka (Oryzias latipes).

Kobayashi D et al.

Developmental Biology, 2017

ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.

Kurkowiak M et al.

Plos One, 2016

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

Zariwala MA et al.

American Journal of Human Genetics, 2013

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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."