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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYO5B

Variant:p.R1724_H1729del6

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MYO5B

NM_001080467.3:p.R1724_H1729del6

hg38:chr18:49836835 TGGTGAAGGTTTCTTCCCC>T

Associated Papers

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.

Dhekne HS et al.

Human Mutation, 2018

29266534 (PubMed )

Supplement: HUMU-39-333-s002.docx

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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."