Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.V408M
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DNAI1

NM_012144.4:p.V408M

Associated Papers

Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome.

Guo QH et al.

Journal of Cellular and Molecular Medicine, 2017

28707430 (PubMed )
Supplement: JCMM-21-3626-s002.xlsx › Sheet1

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

Zariwala MA et al.

American Journal of Respiratory and Critical Care Medicine, 2006

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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."