Varaico: Literature-Extracted Genetic Variants

Gene:SHANK1
Variant:p.G1316D
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SHANK1

NM_016148.5:p.G1316D

Associated Papers

An IGFBP2-derived peptide promotes neuroplasticity and rescues deficits in a mouse model of Phelan-McDermid syndrome.

Burgdorf JS et al.

Molecular Psychiatry, 2023

Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.

Fareed M et al.

Frontiers in Genetics, 2021

34113375 (PubMed )
Supplement: Data_Sheet_1.pdf

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s2.pdf
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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."