Varaico: Literature-Extracted Genetic Variants

Gene:KCNG1
Variant:p.L249S
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KCNG1

NM_002237.4:p.L249S

Associated Papers

Rare FMR1 gene mutations causing fragile X syndrome: A review.

Sitzmann AF et al.

American Journal of Medical Genetics. Part A, 2018

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

Collins SC et al.

American Journal of Medical Genetics. Part A, 2010

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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."