Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.W9R
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PTHLH

NM_198965.2:p.W9R

Associated Papers

A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.

Scheffer-Rath MEA et al.

Bone Reports, 2023

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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."