Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.G154R
Back to variants list

PTHLH

NM_198965.2:p.G154R

Associated Papers

Variable clinical severity in TANGO2 deficiency: Case series and literature review.

Schymick J et al.

American Journal of Medical Genetics. Part A, 2022

Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).

Kaitila I et al.

American Journal of Medical Genetics, 1996

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."