template116regionwosyndrome

17p13.1欠失症候群（17p13.1 deletion syndrome）

この遺伝子座にある疾患に関与する可能性が高い遺伝子

S/N	遺伝子名	関連する疾患名	Associated disease name
1
2

chromosomal region↑, chromo↓, ⇒genes and name of associated pathology

Gene_Pathology

chromosomal region, gene location↑, symptoms management

prot↑, etiology and inheritance//geneticcousellingNIPT

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[TEMPLATE, do not overwrite]Gene_Pathology

chromosomal region, gene location↑, symptoms management prognosis anyhelpfulinfo

protein here↑, part two of text

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将来の見通し

prognosis.future outlook. survivability rate of unborn~young child. are there examples of adults living.

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【写真あり・英語】ユニーク（Unique）による【★★★★★★★】に関する情報シート

引用文献

• Online Mendelian Inheritance in Man. (Last updated MMMMMYYYYYY by PERSONPERSON). Retreived from LINKKKKKKKKKKK
• Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., & Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https://doi.org/10.1093/nar/gkae974
• Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., … Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891–D899. https://doi.org/10.1093/nar/gkad1049
• Jumper, J et al. Highly accurate protein structure prediction with AlphaFold. Nature (2021).
• Varadi, M et al. AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models. Nucleic Acids Research (2021).