Varaico: Literature-Extracted Genetic Variants

Gene:KNL1
Variant:p.S6delFs
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KNL1

NM_144508.5:p.S6delFs

Associated Papers

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).

Naveed M et al.

Genetics Research, 2018

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.

Mahmood S et al.

Orphanet Journal of Rare Diseases, 2011

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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."