Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.Q7_Q8insFs
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PTHLH

NM_198965.2:p.Q7_Q8insFs

Associated Papers

Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a.

Germain-Lee EL

Pediatric Endocrinology Reviews : Per, 2006

Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.

Germain-Lee EL et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

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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."