Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.E131D
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PTCH1

NM_000264.5:p.E131D

Associated Papers

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Lacbawan F et al.

Journal of Medical Genetics, 2009

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

Ming JE et al.

Human Genetics, 2002

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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."