Varaico: Literature-Extracted Genetic Variants

Gene:KITLG
Variant:p.F88S
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KITLG

NM_000899.5:p.F88S

Associated Papers

Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.

Paracchini R et al.

Clinical Genetics, 2003

Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.

Riepe FG et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

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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."