Varaico: Literature-Extracted Genetic Variants

Gene:FGF10
Variant:p.S143_K144Splc
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FGF10

NM_004465.2:p.S143_K144Splc

Associated Papers

Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.

Freund O et al.

American Journal of Medical Genetics. Part A, 2023

An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome.

Scheckenbach K et al.

Bmc Medical Genetics, 2008

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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."