Varaico: Literature-Extracted Genetic Variants

Gene:PCDHAC2
Variant:p.L44P
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PCDHAC2

NM_018899.6:p.L44P

Associated Papers

Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.

Bae J et al.

Endocrinology and Metabolism (seoul, Korea), 2018

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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."