Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.A393T
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SHH

NM_000193.4:p.A393T

Associated Papers

WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways.

Yin H et al.

Journal of Human Genetics, 2020

Holoprosencephaly: clinical, anatomic, and molecular dimensions.

Cohen MM

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006

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."